Urinary Tract Infection
Posted by on Monday, 4th March 2013
Introduction
A urinary tract infection (UTI) is a common infection that occurs in the urinary tract (any part of the body used to make and get rid of urine).
Symptoms of a UTI in babies and infants include:
Vomiting
High temperature of or above 38°C (100.4°F)
Irritability
Appearing lazy and sluggish (lethargic)
Symptoms of a UTI in older children include:
frequent passing of urine
complaining of pain or a burning sensation when passing urine
When to seek medical advice
Always contact Dr. B C Shah if you think your child has a UTI. This is not usually a serious type of infection but it does need to be properly diagnosed and treated by a doctor.
Treatment
Most cases of UTIs can be successfully treated with antibiotics.
As a precaution, babies under three months old are usually admitted to hospital, as are children with more severe symptoms.
Many older children can be treated safely at home.
What is the urinary tract?
The urinary tract is where our bodies make and get rid of urine. It is made up of:
The kidneys: two bean-shaped organs that make urine out of waste materials from the blood
The ureters: tubes that run from the kidneys to the bladder
The bladder: where urine is stored until we go to the toilet
The urethra: the tube through which urine passes out of the body
Causes
UTIs develop when part of the urinary tract becomes infected, usually by bacteria. Bacteria can enter the urinary system through the urethra or, more rarely, through the bloodstream.
In many cases of urinary tract infection in children, there is no apparent cause. However, several factors which increase the risk of a UTI developing include:
Constipation, which can place pressure on the bladder, making it more vulnerable to infection
Dysfunctional voiding: a relatively common childhood condition where a child ‘holds on’ to their urine even though they have an urge to urinate
Types of urinary tract infection
There are two types of UTI:
A lower UTI is an infection of the lower part of the urinary tract, which includes the bladder and the urethra. An infection of the bladder is called cystitis, and an infection of the urethra is known as urethritis.
An upper UTI is an infection of the upper part of the urinary tract, which includes the kidneys and the ureters. Upper UTIs are potentially more serious because there is a risk of kidney damage. An infection of the kidneys is known as pyelonephritis.
Who is affected
UTIs are a relatively common infection during childhood.
During the first year of life they are more common in boys then girls, but this changes as children grow older.
It is estimated that around 1 in 10 girls and 1 in 50 boys will develop a UTI at some point between their first and second birthday.
The frequency of infection drops as children grow older, but can rise in women again once they become sexually active (sexual activity is a risk factor for UTIs in adults).
Outlook
Treatment for UTIs in children is usually very effective, with symptoms cleared up quickly.
It is important to always seek prompt treatment if you think your child has a UTI (or any other type of infection), as if left untreated complications can occur, such as:
Scarring of the kidneys, which in later life can cause high blood pressure
Kidney disease
Symptoms of UTIs in children
Symptoms of childhood urinary tract infections (UTIs) can vary depending on the age of the child.
Babies under three months
In babies under three months, symptoms of a UTI (ranked in order of most common to least common) are:
High temperature of or above 38°C (100.4°F)
Vomiting
Lethargy (lack of energy)
Irritability
Poor feeding
Failure to thrive (not developing at the expected rate)
Abdominal pain
Yellowing of the skin and whites of the eyes (jaundice)
Blood in their urine
Unpleasant smelling urine
Older infants
In infants older than three months but not old enough to talk, symptoms of a UTI (ranked in order of most to least common) are:
High temperature of or above 38°C (100.4°F)
Abdominal pain
A feeling of tenderness around their pelvis
Vomiting
Poor feeding
Lethargy
Irritability
Blood in their urine
Unpleasant smelling urine
Failure to thrive
In children old enough to talk, symptoms of a UTI (ranked in order of most to least common) are:
A frequent need to urinate
Pain or a burning sensation during urination (dysuria)
D51eliberately holding in their urine
A change in their normal toilet habits, such as wetting themselves or wetting the bed
A feeling of tenderness around their pelvis
Fever
A general sense of feeling unwell
Blood in their urine
Unpleasant smelling urine
Cloudy urine
When to seek medical advice
You should always contact Dr. B C Shah if your child develops any symptoms listed above.
Most UTIs that occur during childhood are mild and are not a cause for concern, but do usually require treatment with antibiotics to reduce the duration of infection and any risk of complications.
Causes of UTI
Most urinary tract infections (UTIs) are caused by bacteria that live in the digestive system. If these bacteria get into the urethra (the tube through which urine passes), they can cause infection.
In young children this can often occur when they wipe their bottom after going to the toilet, and soiled toilet paper comes in contact with their genitals.
Young girls are more at risk than boys from UTIs because there is less distance between their bottom and their urethra.
Babies who soil their nappies can also sometimes get small particles of stool into their urethra. Modern nappies are designed to prevent this, but it can occur by accident if a baby squirms a lot when being changed.
There are also several conditions that can increase the risk of UTIs occurring. These are outlined below.
Constipation
Constipation does not usually have obvious causes, but can sometimes result from lack of fibre in a child’s diet. Constipation is a relatively common condition among children.
Constipation can cause the rectum (the part of the large intestine that connects to the anus) to swell, which can put pressure on the bladder, preventing it from emptying normally. The remaining urine can then become infected by bacteria.
Read more about constipation in children.
Dysfunctional voiding
Dysfunctional voiding is a relatively common condition among children. It occurs when a child ‘holds on’ to their urine even though they have the urge to urinate. This can occur as a result of nerve damage, but can also be due to habit, which may be difficult for the child to break.
For example, young children at playschool or primary school may be nervous or embarrassed about asking to use the toilet, so they may hold onto their urine until they go home.
Children usually grow out of dysfunctional voiding as they start to adopt more regular bathroom habits. However, some children may need special training.
Vesicoureteral reflux
Vesicoureteral reflux is an uncommon condition in which urine leaks back up from the bladder into the ureters and kidneys. It is estimated that one in 50 girls and one in 200 boys under the age of 12 are affected by vesicoureteral reflux.
There are two types of vesicoureteral reflux:
Primary vesicoureteral reflux is caused by a defect present before birth. There is usually a valve between the bladder and the ureters that prevents urine leaking back out of the bladder. In children who have primary vesicoureteral reflux, the valve does not function properly, and urine is able to flow out of the bladder and back up the ureter to the kidney.
Secondary vesicoureteral reflux is caused by a condition that occurs after birth. For example, urine flow from the bladder may be blocked, or a lower UTI may cause the ureters to become so inflamed and swollen that the one-way valves in the ureters fail, allowing urine to flow both ways.
The danger with vesicoureteral reflux is that a lower UTI can quickly turn into a more dangerous upper UTI, because infected urine can move out of the bladder and back into the ureters and kidneys.
Primary vesicoureteral reflux usually clears up in children as they get older. However, if it is felt a child has a high risk of developing upper UTIs, they may be prescribed an antibiotic to take in the long-term.
Although UTIs can easily be treated with antibiotics and risk of complications is low, if left untreated they can cause kidney scarring. Scarring can occur over time when there is a backup of urine that exposes the kidneys to higher-than-normal pressure. Extensive scarring may lead to high blood pressure and end-stage kidney disease (also known as kidney failure), where kidneys lose most or all of their functioning abilities.
If a child has severe, persistent or recurring vesicoureteral reflux, then surgery is sometimes a treatment option.
Diagnosing UTIs
Children with symptoms of a urinary tract infection (UTI) should always have their urine tested because an accurate diagnosis is important for treatment.
An exception may be made for girls over three years of age who have typical symptoms of cystitis (infection of the bladder), such as urinating more frequently and pain when passing urine.
Urine sample
A urine test is also useful for ruling out other conditions that can cause similar symptoms, such as type 1 diabetes.
If your child has a temperature of 38°C (100.4°F) or above (a fever), and the doctor is unable to find an obvious cause, your child’s urine should be tested within 24 hours.
If your child does not have a fever but has other symptoms of a UTI, a urine test will still be required. However, the urine test does not need to be carried out as quickly, and it might be reasonable to wait more than 24 hours to have it done.
In young children, it is very important to make an accurate diagnosis. However, it can be difficult to obtain a clean urine sample from young children because they are often unable to pass urine into a specimen bottle. Also, if the inside rim of the specimen bottle is touched, it will affect the quality of the sample. Therefore, it may be necessary to carry out the test in hospital where health professionals with skill in obtaining a sample are available.
If there is an urgent need to obtain a sample then a small plastic tube, called a catheter, can be placed into your child’s urethra (the tube through which urine passes out of the body). The catheter will be guided up into the bladder and used to drain out a small sample of urine for testing.
This tends to only be used in more serious cases as children can find the experience upsetting.
Further testing
Further testing is usually only required if your child's UTI symptoms are different from common symptoms (atypical). Examples of atypical symptoms include:
Being seriously ill
Reduced urine flow
A noticeable lump or mass in their abdomen (stomach) or bladder
Testing which shows the bacteria has spread from their urinary tract to their blood
They failed to respond to antibiotic treatment within 48 hours
The infection was caused by bacteria other than the Eschericia coli (E. coli) bacteria
Further testing is also required if your child has previously had:
Two or more upper UTIs
One upper UTI, plus one or more lower UTIs
Three or more lower UTIs
A typical symptoms and recurring UTIs could be due to underlying problems with your child’s urinary tract infection that will require further investigation.
Tests and procedures commonly used to investigate the urinary tract are described below.
Ultrasound scan
An ultrasound scan is usually the first procedure used to assess the urinary tract. The ultrasound scan uses sound waves to build up a picture of the inside of your child's body.
An ultrasound scan is a useful way of assessing whether there are any obvious abnormalities in your child’s urinary tract, such as an unusually narrow ureter (the tube that runs from the kidneys to the bladder) a bladder stone, or kidney stone.
DMSA Scan
A dimercaptosuccinic acid (DMSA) scan is used to assess the state of the kidney. A DMSA scan is usually carried out six months after an acute atypical UTI (a UTI with unusual symptoms) or after the last episode of a series of recurring UTIs.
A DMSA scan is used to assess whether your child’s kidneys have been damaged, or if there are any abnormalities with the kidneys that are making them vulnerable to recurring UTIs. DMSA is a mildly radioactive substance that shows up on a special camera, known as a gamma camera.
During the procedure, your child will be injected with DMSA. After an hour, the DMSA will build up inside the kidneys. DMSA only attaches itself to healthy tissue, so is a useful method of locating any damaged kidney tissue.
The gamma camera is used to take a series of pictures of your child’s kidneys. It usually takes about 30 minutes to complete the scan. During this time it is important for your child to remain as still as possible, so it may be a good idea to bring their favourite book or toy to help them relax during the scan.
A DMSA scan is not painful because local anaesthetic is used to numb the site of the injection. However, the gamma camera is quite large, so younger children may find the experience upsetting. Explaining exactly what will happen and what to expect before the scan may help reassure your child.
After the scan, the DMSA will pass harmlessly out of your child’s body in their urine. Their urine will be slightly radioactive, but is not harmful to your child or other people. However, as a precaution, it is recommended you wash your hands after changing your child’s nappy, and dispose their nappies in a sealed plastic bag.
Micturating cystourethrogram (MCUG)
Micturating cystourethrogram (MCUG) is a procedure used to study the bladder rather than the kidneys.
MCUG is used to check your child does not have vesicoureteral reflux (a condition where urine leaks back up from the bladder towards the kidneys). As with a DMSA scan, it is important for your child to stay as still as possible during the MCUG procedure. Very young children and babies may need to be wrapped tightly in blankets to help prevent them moving during the procedure.
During MCUG, your child will lie on a bed or treatment table and a catheter will be used to pass a special type of liquid, known as a contrast agent, into their bladder. Like DMSA, the contrast agent shows up very clearly on an X-ray.
An X-ray film will then be taken as the contrast agent is passed out of your child’s bladder, in the same way that their urine passes out.
If the X-ray film shows some of the contrast agent leaking back out of the bladder towards the kidneys, it is likely that your child has vesicoureteral reflux.
Most cases of vesicoureteral reflux resolve without the need for treatment as a child gets older. Your child may be prescribed a long-term course of low-dose antibiotics to help prevent them from developing another UTI, until the condition resolves.
The MCUG procedure is not painful and takes around 30 minutes to complete. However, it is likely your child will feel mild discomfort when the catheter is first inserted into their urethra.
The X-rays will expose your child to a low dose of radiation that is entirely safe. The levels of radiation used are the same as the amount of radiation your child would be exposed to by natural sources (background radiation) over the course of three to six months.
Treating UTIs
If your child is younger than three months old, they will be referred to a doctor who specialises in the care of children (paediatrician).
Your baby will usually be treated in hospital using an intravenous drip (where a tube containing antibiotics is directly connected to their vein). They should recover from the UTI within 24 to 48 hours.
Children over three months old
If your child is over three months old and it is felt they are at risk of serious complications, then you can contact Dr. B C Shah.
Signs that indicate your child may develop serious complications from a UTI include:
A recurring high temperature of 38°C (100.4°F) or above
Dehydration, which can cause them to appear drowsy and have few or no tears when crying
Being sick
A known condition that affects their urinary system
A history of kidney disease in your family
If your child is very young, Dr. B C Shah may decide to refer them for hospital treatment, even if there is not an obvious risk they will develop serious complications.
If it is felt there is no risk of serious complications developing, or if the risk is low, you may be able to treat your child at home. The infection can be treated using oral antibiotics, and paracetamol can be used to treat symptoms of fever or discomfort.
For lower UTIs, a three-day course of antibiotics is usually recommended. For upper UTIs, a seven-day course of antibiotics is usually recommended. Children who are unable to swallow tablets or capsules can be given antibiotics and paracetamol in liquid form.
Your child should recover from the UTI within 24 to 48 hours. However, it is very important they finish the prescribed course of antibiotics to prevent the infection recurring.
After taking antibiotics, some children may experience side effects. However, any side effects will usually pass after your child stops taking the antibiotics. Side effects may include:
Feeling sick (nausea)
Vomiting
Upset stomach
Diarrhoea
Loss of appetite
A very small number of children (less than one in 5,000) may experience a severe allergic reaction (anaphylaxis) to antibiotics that contain penicillin. Symptoms of an allergic reaction to penicillin include:
A rash
Swelling of the hands, feet and face
Shortness of breath
If your child experiences these symptoms, you should immediately dial 999 for an ambulance and tell the operator you think anaphylaxis has occurred.
Treating constipation
It is important to treat constipation in children promptly because it is a major risk factor for developing UTIs.
As with babies and adults, children with constipation will first be advised to change their diet. If this fails, laxatives can be prescribed. An osmotic laxative is usually prescribed, followed if necessary by a stimulant laxative.
Osmotic laxatives increase the amount of fluid in your child’s bowels. This helps to soften your child’s stools, making it easier for them to pass them out of their body.
Stimulant laxatives stimulate the muscles that line the digestive tract, helping to move stools along your child’s large intestine to their anus (the point at which waste products leave the body).
As well as eating plenty of fruit, older children should have a well balanced diet that contains vegetables and wholegrain foods, such as wholemeal bread and pasta.
Surgery
Surgery is usually only recommended if :
Your child has severe, persistent or recurring vesicoureteral reflux (where urine leaks back up from the bladder and into the ureters and kidneys), and
They are having reoccurring UTIs that could result in permanent scarring of their kidneys
Surgery aims to repair the valve between the bladder and each affected ureter that keeps it from closing and stopping urine from flowing backward. The two types of surgery used are:
Open surgery. This type of surgery is performed under general anaesthetic and your child will usually need to stay in hospital for a few days. A catheter may be used to drain your child's bladder. The risks of open surgery can include infection, blood clots and bleeding.
Endoscopic surgery. This type of surgery is less invasive compared to open surgery but is not always as effective. A cystoscopy allows the doctor to see inside your child's bladder and inject a bulking agent to try to strengthen the defective valve. Endoscopic surgery is also performed under general anaesthetic, but can usually be performed as an outpatient procedure rather than needing an overnight stay.
Preventing UTIs
It is not possible to prevent all childhood urinary tract infections (UTIs), but the advice listed below may help reduce their frequency.
Breastfeeding your baby may lower the risk of them developing a UTI. However, the effect takes time to build up, only providing protection after three months of breastfeeding.
Encourage your child to wipe their bottom from front to back. This will help to minimise the chances of bacteria entering the urethra (the tube through which urine passes).
Encourage boys to clean around their foreskin regularly. Bacteria can build up there and enter the urethra. If your child’s foreskin is still fixed (does not retract), you should not attempt to clean under it because doing so may damage the surrounding area.
Encourage children to go to the toilet regularly – at least every four hours, and before having a bath and going to bed.
Avoid nylon and other types of synthetic underwear. These can help promote the growth of bacteria. Loose-fitting cotton underwear should be worn instead.
Drinking cranberry juice can help prevent UTIs, but be careful to limit the amount your child drinks because too much can cause diarrhoea. Three glasses of low-sugar cranberry juice a day is a safe amount for most children. Cranberry juice is not suitable for children with diabetes, or for those taking warfarin (a blood-thinning medicine). Higher-strength cranberry capsules are also available, but are not suitable for children aged under 12.
Recurrent urinary tract infections
A small number of children have recurring UTIs. If your child has previously had a UTI, it is important both of you watch for the return of any associated symptoms.
Tell Dr. B C Shah of any symptoms as soon as possible so a diagnosis can be confirmed and treatment can begin.
- See more at: http://drbcshah.com/urinary-tract-infection/#sthash.vcyWQQsv.dpuf
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Underactive Thyroid
Posted by on Sunday, 3rd March 2013
Introduction
An underactive thyroid means your thyroid gland, located in the neck, does not produce enough hormones.
Common signs of an underactive thyroid are tiredness, weight gain and feeling depressed.
Medically known as hypothyroidism, an underactive thyroid is not usually serious. It is easily treated by taking hormone tablets to replace the hormones that your thyroid isn't making.
The thyroid produces a hormone called thyroxine, which controls how much energy your body uses. When the thyroid does not produce enough thyroxine, many of the body's functions slow down.
An underactive thyroid cannot be prevented. Most cases of underactive thyroid are caused either by your immune system attacking your thyroid or a damaged thyroid.
Find out more about the causes of underactive thyroid.
When to see Dr. B C Shah
See Dr. B C Shah and ask to be tested for an underactive thyroid if you have symptoms including:
Tiredness
Weight gain
Depression
Being sensitive to the cold
Dry skin and hair
Muscle aches
Symptoms of an underactive thyroid are often confused for something else, by patients and doctors. Symptoms also usually begin slowly and you may not notice them for several years. The only accurate way to find out if you have a thyroid problem is to get a blood test to measure your hormone levels.
Who can it affect?
Both men and women can have an underactive thyroid. However, it's more common in women.
One in 4,500 babies are born with an underactive thyroid (called congenital hypothyroidism).
Treatment
Underactive thyroid is usually not serious, and taking hormone-replacement tablets, called levothyroxine, will raise your thyroxine levels. You will usually need treatment for the rest of your life. However, with careful management, you should be able to lead a normal, healthy life.
If it is not treated, an underactive thyroid can lead to complications, including swelling of the thyroid (a condition called goitre), heart disease, mental health problems and infertility.
Symptoms of underactive thyroid
Many symptoms of an underactive thyroid (hypothyroidism) are the same as those for other conditions, so they can easily be confused for something else.
Symptoms usually begin slowly and you may not realise you have a medical problem for several years.
Common symptoms include:
Being sensitive to cold
Weight gain
Constipation
Depression
Tiredness
Slowness in body and mind
Muscle aches and weakness
Muscle cramps
Dry and scaly skin
Brittle hair and nails
Heavy or irregular periods
Elderly people with an underactive thyroid may develop memory problems and depression. Children may experience slower growth and development. Teenagers may start puberty earlier than normal.
If you have any of these symptoms, see Dr. B C Shah and ask to be tested for an underactive thyroid.
Find out more about getting tested for an underactive thyroid.
If underactive thyroid is not treated
It is unlikely that you would have many of the later symptoms of an underactive thyroid as the condition is often spotted before more serious symptoms appear.
Later symptoms of underactive thyroid include:
A low-pitched and hoarse voice
Dull facial expressions and a puffy-looking face
Thinned or partly missing eyebrows
A slow heart rate
Deafness
Anaemia
Causes of underactive thyroid
An underactive thyroid (hypothyroidism) happens when your thyroid gland doesn't produce enough of the hormone thyroxine, also called T4.
Most cases of underactive thyroid are due to either the immune system attacking the thyroid gland or a damaged thyroid.
Immune system
Most cases of underactive thyroid happen when the immune system, which normally fights infection, attacks the thyroid gland. Doctors describe this as an autoimmune reaction. This damages the thyroid, which means it is not able to make enough of the hormone thyroxine, and leads to the symptoms of an underactive thyroid.
Hashimoto's disease is the most common type of autoimmune reaction that causes an underactive thyroid.
It is not clear what causes Hashimoto’s disease, but the condition runs in families. It is also common in people with another disorder related to the immune system, such as type 1 diabetes and vitiligo.
Treatment for overactive thyroid
An underactive thyroid can also be a side effect of treatment for an overactive thyroid, a condition where the thyroid gland produces too much hormone.
Treatment for an overactive thyroid, medically known as hyperthyroidism, can involve medication, radiotherapy or surgery, all of which can cause your thyroid to become underactive.
Other rare causes
A lack of iodine in your diet may cause an underactive thyroid. This is because your body needs iodine to make thyroxine.
A viral infection or some drugs used to treat other conditions, such as depression and heart disorders, can cause the thyroid to stop working properly.
A baby may be born with an underactive thyroid if the gland does not develop properly in the womb. However, this is usually picked up during neonatal screening.
A problem with the pituitary gland could lead to an underactive thyroid. The pituitary gland is located at the base of the brain and regulates the thyroid. Therefore, damage to the pituitary may lead to an underactive thyroid.
Diagnosing underactive thyroid
If you have symptoms of an underactive thyroid(hypothyroidism), see Dr. B C Shah and ask for a blood test.
A blood test measuring your hormone levels is the only accurate way to find out if there is a problem.
The test, called a thyroid function test, looks at levels of thyroid-stimulating hormone (TSH) and thyroxine in the blood.
A high level of TSH and a low level of thyroxine hormone in the blood could mean you have an underactive thyroid.
If your test shows raised TSH but normal thyroxine, it means you may be at risk of developing an underactive thyroid in the future.
Referral
Dr. B C Shah may refer you to a specialist in hormone disorders, known as an endocrinologist, if you:
Are younger than 16
Are pregnant or trying to get pregnant
Have just given birth
Have another health condition, such as heart disease, which may complicate your medication
Are taking amiodarone or lithium medication
Treating underactive thyroid
An underactive thyroid (hypothyroidism) is usually treated by taking hormone-replacement tablets called levothyroxine.
Levothyroxine replaces the thyroxine hormone which your thyroid does not make enough of.
A blood test measuring your levels of thyroid-stimulating hormone (TSH) will establish how much levothyroxine you need.
If the test detects high levels of TSH, it means you have an underactive thyroid and your doctor may advise you to take levothyroxine.
You may start on a low dose of levothyroxine, which may be increased gradually depending on how your body responds.
You will initially have regular blood tests until the correct dose of levothyroxine is reached. This can take a little while to get right.
If your symptoms are mild
If testing detects high levels of TSH but you do not have any symptoms or they are very mild, you may not need any treatment.
Dr. B C Shah will usually monitor your hormone levels every few months and may start you on levothyroxine if you develop symptoms.
Some people start to feel better soon after beginning treatment, while others can take several months.
An underactive thyroid is a lifelong condition, so you will probably need to take levothyroxine for the rest of your life.
Levothyroxine does not usually have any side effects as the tablets simply replace a missing hormone.
Once you are taking the correct dose, you will usually have a blood test once a year to monitor your TSH levels.
Complications of underactive thyroid
Several complications can occur if you have an underactive thyroid that is not treated.
An underactive thyroid can be caused by a problem with the immune system, the body’s natural defence system, which can attack the body's own cells, including the thyroid.
This disorder may raise your risk of developing other immune conditions, although this is unusual.
These conditions include:
B12 deficiency
vitiligo (patches on the skin caused by pigment loss)
kidney failure
premature failure of the ovaries or early menopause
goitre
heart disease
Coma risk
In very rare cases, a severe underactive thyroid may lead to a life-threatening condition known as myxedema coma.
Warning signs include:
low body temperature
shallow breathing
low blood pressure
low blood sugar
unresponsiveness
- See more at: http://drbcshah.com/underactive-thyroid/#sthash.mrpuqdYL.dpuf
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Trichobezoar operation
Posted by on Saturday, 2nd March 2013
http://drbcshah.com/trichobezoar-operation/
Please check the operation photos as how a huge part of hair ball was removed from the abdomen.
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Muscular Dystrophy
Posted by on Friday, 1st March 2013
Introduction
Muscular dystrophy (MD) is a genetic (inherited) condition that gradually causes the muscles to weaken. This leads to an increasing level of disability.
MD is a progressive condition, which means that it gets worse rather than better. It often affects a particular group of muscles, before moving on to other muscles. If MD begins to affect the heart or the muscles used for breathing, it becomes life-threatening.
What causes muscular dystrophy?
MD is caused by mutations (changes) in the genes that are responsible for the structure and functioning of a person’s muscles. These mutations cause changes in the muscle fibres, which interfere with the muscles' ability to function. Over time, this causes increasing disability.
The mutations are often inherited from a person’s parents. If there is a known family history of MD, Dr. B C Shah may be able to refer you for genetic testing and counselling, to give you more information about preventing MD.
Types of muscular dystrophy
There are more than 30 types of MD, each with slightly different symptoms. Not all types of MD cause severe disability.
Some of the more common types of MD are listed below.
Duchenne muscular dystrophy
Duchenne MD is the most common and one of the most severe forms of MD. It usually affects boys and is diagnosed at around three years of age. It starts in the leg muscles before quickly progressing to other muscle groups.
Children with Duchenne MD may be in a wheelchair by 8-12 years old and have a limited life expectancy. While people with Duchenne MD used to be expected to live only into their teens, today most people with Duchenne MD survive well into their 20s and sometimes longer.
Becker muscular dystrophy
Becker MD is closely related to Duchenne MD, but it is milder and less common. Like Duchenne MD, Becker MD tends to affect boys, although it is not usually diagnosed until a child reaches about school age. It also progresses more slowly. Those with Becker MD can walk at least until their late teenage years, and often much longer, sometimes until 40-50 years old or more.
Myotonic muscular dystrophy
Myotonic MD is the most common form of MD in men and women. It can present at any age, even before birth. It can affect many parts of the body, including the muscles, heart and eyes. It is important for this to be diagnosed because of possible problems under anaesthetic and complications for an affected woman in childbirth.
Limb-girdle muscular dystrophy
Limb-girdle MD has around 15 different varieties. It can affect both sexes and usually appears in early adulthood. Limb-girdle MD initially starts in the muscles around the hip and shoulder, but it can also progress quite quickly to other areas.
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral MD affects the muscles in the face (facio), shoulders (scapula) and upper arm (humeral). It can affect both sexes. Symptoms start in childhood or adult life and usually progress slowly.
Oculopharyngeal muscular dystrophy
Oculopharyngeal MD affects the muscles of the eye (ocular) and throat (pharyngeal). The condition affects both sexes, usually starting in middle age.
How common is muscular dystrophy?
. Duchenne MD is the most common type of MD. The second most common type is myotonic MD.
What treatment is available?
Although there is no cure for any of the different types of MD, a range of treatments for MD can help with the physical disabilities and heart problems. These may include:
mobility assistance – including exercise, physiotherapy and physical aids
support groups – to help deal with the practical and emotional impact of MD
surgery – to correct postural deformities such as scoliosis
medication – such as steroid medication to improve muscle strength, or ACE inhibitors and beta-blockers to treat heart problems
Symptoms of muscular dystrophy
The symptoms of muscular dystrophy (MD) and their severity will vary from person to person depending on the type of MD they have.
Typical symptoms of some of the most common types of MD are explained below.
Duchenne muscular dystrophy
Your child will usually start to show signs of Duchenne MD at 1-3 years of age. The muscles around their pelvis and thighs tend to be affected first and often appear bulkier than normal, even though there is progressive weakening. Your child may:
Have difficulty walking
Have difficulty standing up
Be unable to climb the stairs without support
Have behavioural or learning difficulties
Children with Duchenne MD may need a wheelchair by the age of 10. They can also develop scoliosis, in which their spine begins to curve sideways. This can lead to one shoulder or hip being higher than the other.
By the mid-teens, some people with Duchenne MD will develop dilated cardiomyopathy. This is where the condition affects the heart muscles, causing the chambers of the heart to enlarge and the heart walls to become thinner.
By late teens or early twenties Duchenne MD can begin to cause respiratory (breathing) problems. The condition can affect the intercostal muscles (muscle tissue between the ribs) and the diaphragm (the main muscle between the chest and the abdomen that is used during breathing).
Once the heart and respiratory muscles are damaged, Duchenne MD becomes life-threatening. In most cases, someone with Duchenne MD will die from heart or respiratory failure before they are 30 years old.
Becker muscular dystrophy
The symptoms of Becker MD are similar to those of Duchenne muscular dystrophy. However, they are milder and do not usually appear until a person is at least 10 or 11 years old. If your child has Becker MD, they may:
Be late learning to walk
Have muscle cramps when exercising (a painful spasm in the muscle)
Struggle with sport at school
The rate at which someone with Becker MD develops symptoms is very variable. Affected individuals will often first find that they have difficulty running, walking quickly and climbing stairs. As they get older, they may find it difficult to lift objects above waist height. They will often eventually require a wheelchair by 40-50 years old, but this may be much earlier or later.
If you have Becker MD, you are also at risk of developing dilated cardiomyopathy and respiratory problems. However, Becker MD progresses more slowly than Duchenne MD, and those with the condition often have a normal lifespan.
Myotonic muscular dystrophy
As with other types of muscular dystrophy, myotonic MD involves progressive muscle weakness and muscle wasting. However, it is often the smaller muscles, such as those in the face, jaw, neck and hands, and lower legs that are affected first.
As well as muscle weakness and wasting, symptoms can include:
Myotonia (muscle stiffness)
Cataracts (cloudy patches in the lens inside the eye)
Hormonal problems
Excessive sleeping or sleepiness
Behavioural problems in children
Myotonic MD can also cause slow and irregular heart beats (cardiac arrhythmia). Serious problems can develop in about 60-70% of people who have these abnormalities. In some cases, it can cause sudden death.
Myotonic MD can appear at any time between birth and old age. It affects the same number of men and women. The rate of deterioration is often very slow, with little change over a long period of time. Someone with myotonic MD may never have significant disability, although their heart rate will need to be monitored for abnormalities.
Limb-girdle muscular dystrophy
The symptoms of limb-girdle MD often begin during late childhood or early adulthood. There are about 15 varieties that affect both sexes equally.
Limb-girdle MD causes weakness in the big muscle groups in the arms and legs. The first symptoms are often mobility problems affecting the hip girdle. It then progresses to the shoulder girdle (‘girdle’ means the bones around the shoulder or hip).
If you have limb-girdle MD, you may experience:
Muscle weakness in your hips, thighs and arms
Loss of muscle mass in the affected areas
Back pain
Heart palpitations or irregular heart beats
The muscle weakness will create problems such as:
Difficulty getting out of a low seat
Difficulty lifting objects
Difficulty running
Limb-girdle MD can progress at different rates as it is a group of conditions rather than one single disorder. Some people may be affected in a similar way to boys with Duchenne MD, but more often it has a pattern similar to Becker MD.
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral MD can affect men and women. It tends to affect men slightly more than women, although the reason for this is unclear. The condition usually develops between 10 and 40 years of age, and it progresses slowly.
Symptoms in your child may include:
They sleep with their eyes slightly open
They cannot squeeze their eyes tightly shut
They cannot purse their lips (for example, to blow up balloons)
Teenagers or adults may have aches in their shoulders, rounded shoulders or thin upper arms. As the condition progresses, it usually affects the muscles:
In the face (facio)
In the shoulders (scapula)
In the upper arms (humeral)
In the upper back
In the calves
Around 50% of people with facioscapulohumeral MD develop weakness in their leg muscles. Between 10 and 20% of people will need a wheelchair.
Facioscapulohumeral MD can develop unevenly, so that the muscles on one side of the body may be affected more than the other. Some people may not even be aware that they have the condition until they reach old age. The slow progression means that it does not usually shorten life expectancy.
Oculopharyngeal muscular dystrophy
In oculopharyngeal MD, symptoms are not usually apparent until a person is around 50 or 60 years old, although the abnormal gene that causes the condition will have been present since birth. It affects the muscles in the eyes (ocular) and the throat (pharyngeal).
Symptoms of oculopharyngeal MD can include:
Ptosis (droopy eyelids)
Dysphagia (difficulty swallowing)
Progressive restriction of eye movement as the eye muscles are affected
Limb weakness around the shoulders and hips
As the eyelids droop, they can cover the eyes and impair vision. It is also possible to develop diplopia (double vision).
The dysphagia can eventually make it hard to swallow solid foods and liquids, and even small amounts of saliva. However, with treatment to manage the symptoms, a person’s life expectancy is not usually altered.
Causes of muscular dystrophy
In most cases, muscular dystrophy (MD) is an inherited condition (it runs in families). It is caused by a faulty gene.
Genetics
Genes are units of genetic material (DNA) that determine many of your body's characteristics, such as the colour of your hair and eyes. Each cell in your body contains the same genetic information.
MD is caused by mutations in the genes that are responsible for healthy muscle structure and function. The mutations mean that the cells that should maintain your muscles can no longer fulfil this role, leading to muscle weakness and progressive disability.
Inheriting muscular dystrophy
You inherit your genes from your parents, with one copy of each gene being inherited from each parent (except for conditions, such as Duchenne and Becker MD). If one or both of your parents has a mutated gene that causes MD, it can be passed on to you. MD can be caused by a:
Recessive inherited disorder
Dominant inherited disorder
Sex-linked disorder
These are explained in detail below.
A recessive inherited disorder
If you have a recessive inherited disorder, it means that both of your copies of the gene need to be affected before you would have the condition (a single intact copy of the gene is enough to avoid having the condition). Both the parents and all the children of an affected person are therefore likely to be healthy carriers, with one altered copy of the gene and one intact copy.
Occasionally, an affected person may have an affected child if their partner happens also to be a carrier of the same condition. When a couple are both carriers, there is a 25% (1 in 4) chance of any child being affected.
A dominant inherited disorder
If you have a dominant inherited disorder it means that you will be affected when only one of your two copies of the gene is altered (mutated).
An affected person therefore has a 50% (1 in 2) chance of transmitting this to his or her children.
A sex-linked disorder
A male has an X and a Y chromosome, whereas a female has two X chromosomes. A sex-linked disorder is caused by a mutation in a gene on the X chromosome. As a male has only one copy of each gene on the X chromosome, if one of those genes is mutated then he will be affected.
A woman has two copies of the X chromosome and if she carries one altered copy of a gene then it is less likely to show. If it shows, she will usually be affected less severely than a man.
This explains why sex-linked disorders such as Duchenne MD and Becker MD are more common in men.
Spontaneous gene mutations
Occasionally, spontaneous gene mutations can cause MD. This is where the genes mutate for no apparent reason, changing the way that the cells function. Spontaneous gene mutations can cause MD to develop in people who do not have a family history of the condition.
Another way in which a child may be affected without anyone else in the family being known to have been affected in the past, is when the condition is recessive . The gene mutations may have been in a family for many years but may never have occurred together in the same individual.
Diagnosing muscular dystrophy
Many different methods can be used to diagnose the various types of muscular dystrophy (MD). The age at which MD is diagnosed will vary depending on when symptoms first start to appear.
Diagnosis will usually involve:
Investigating any symptoms
Discussing any family history of MD
Physical examination
Blood tests
A muscle biopsy (when a sample of tissue is removed for testing)
In the first instance, visit Dr. B C Shah if you or your child have any symptoms of MD. If necessary, Dr. B C Shah may refer you to a hospital for further tests.
Investigating symptoms
Dr. B C Shah will need to know about any symptoms of MD that you or your child have noticed, and when they began to appear. For example, you may be:
Finding it hard to climb the stairs
Unable to play sports as you used to
Finding it hard to lift objects
Identifying when symptoms first appeared and determining which muscles are affected are particularly useful in helping to diagnose different types of MD.
Symptoms in young children
Duchenne MD is the most common type of MD in boys. Symptoms can be present from birth but this is unusual and signs usually appear between 18 months and three years old. You may notice that your child has difficulty walking or climbing stairs, or that they fall down more frequently than other children.
Your child might also find it difficult to stand up from sitting on the floor. They may use what is known as the Gower's manoeuvre to do this. The Gower's manoeuvre is where a child stands up by:
Facing the floor
Placing their feet wide apart
Lifting their bottom first
Using their hands to ‘walk up’ their legs (placing their hands first on their knees, then on their thighs)
Visit Dr. B C Shah if you suspect that your child may have MD. He will look at the following when they examine your child.
The way your child stands.
The way your child walks. Children with Duchenne MD often have a typical style of walking, which is sometimes described as ‘waddling’. Later on, they may tend to stand and walk on the front part of their foot, with their heels off the ground.
Whether your child has an exaggerated inward curve of their lower back. The medical term for this is lordosis. It is also sometimes called ‘sway back’.
Whether your child has an outward or sideways curvature of their spine, known as scoliosis.
Whether your child’s calves and other leg muscles look large compared with other muscles that may be poorly developed.
Family history
If there is a history of MD in your family it is important to discuss it with Dr. B C Shah. This can help to determine which type of MD you or your child might have.
For example, discussing the family history of limb-girdle MD will help Dr. B C Shah to determine if your type of MD is a recessive or a dominant inherited disorder.
Blood tests
A sample of blood may be taken from a vein in your or your child's arm to test it for creatine kinase, a protein usually found in muscle fibres. When muscle fibres are damaged, creatine kinase is released into the blood. The muscle damage caused by MD means that the level of creatine kinase in the blood will be higher than normal.
Muscle biopsy
A muscle biopsy is when a small sample of muscle tissue is taken so it can be examined under a microscope and tested for proteins. The sample will usually be taken from the leg or arm, depending on the type of MD.
Analysing the protein in the muscle can help to determine which gene is causing the MD, and therefore which type of MD you have. For example, people with Duchenne MD and Becker MD have an abnormal amount of the protein dystrophin in their muscles and it is usually an altered size.
Examining the muscle tissue under a microscope can help diagnose limb-girdle MD. Healthy muscle consists of closely packed, evenly-sized fibres. In people with limb-girdle MD, these fibres may be missing, of different sizes or replaced with fat.
Other tests
A number of other tests can be used to find out more about the spread and extent of any muscle damage. This will help your doctor to identify or confirm which type of MD you have. Treatment can then be directed where it is most needed. Some tests are explained below.
A magnetic resonance imaging (MRI) scan uses a strong magnetic field and radio waves to produce detailed pictures of the inside of your body. This can help to identify the affected muscles, and will also show the extent of any muscle damage.
A computerised tomography (CT) scaninvolves taking a series of X-rays to create a detailed image of the inside of your body. This will reveal any muscle damage.
A chest X-ray can be useful for looking for breathing or heart symptoms. It will show up any abnormal enlargement of the heart, plus any fluid in or around the lungs.
In an electromyography (EMG) test a needle is inserted into the muscle to measure the electrical activity of the muscles when they are resting and when they contract (shorten). By measuring the muscle’s response, it is possible to see the extent of muscle damage.
In an electrocardiogram (ECG) electrodes (flat metal discs) are attached to the arms, legs and chest to measure the electrical activity of the heart. This is used to check for an irregular heartbeat and reveal any damage.
An echocardiogram is an ultrasound scan of the heart using sound waves. It gives a clear picture of the heart muscles and valves so the heart structure and function can be checked.
Treating muscular dystrophy
At present there is no cure for muscular dystrophy (MD), but a variety of treatments can help to manage the condition.
As different types of MD can cause quite specific problems, the treatment that you receive will be tailored to your needs. As your symptoms develop, Dr. B C Shah who is treating you should advise you about the options.
New research is investigating possible future treatments. Improved genetic testing can help if you are concerned about passing the condition on to your children.
Mobility assistance
As MD progresses it weakens your muscles and you gradually begin to lose mobility and strength. These physical problems can be helped with the following:
Exercise keeps the muscles working in a good condition, because a lack of activity can make the condition worse
Physiotherapy can be useful for maintaining muscle strength and also the length of tendons, which is important for preserving flexibility and preventing stiff joints
Physical aids, such as a wheelchair, leg braces or crutches, can help you to maintain standing and stay mobile
Support groups
Muscular dystrophy can affect you emotionally as well as physically. Support groups and organisations may help you to understand and come to terms with your condition better. They can also provide useful advice and support for those who care for people with MD.
Steroid medication
In people with Duchenne MD, corticosteroid medication has been shown to improve muscle strength and function for six months to two years. For some people, it can improve:
The time it takes to stand up from the floor
Walking speed
The ability to climb stairs
The ability to lift weights
Some side effects, such as weight gain and excessive hair growth, are associated with using steroid medication.
Surgery
In some severe cases of MD, surgery may be necessary to correct postural deformities. For example, if you or your child has Duchenne MD, you (or they) may develop scoliosis, which is where the spine curves to the side.
Surgery can correct the scoliosis, although there have been no trials to evaluate its effectiveness. Surgery is aimed at:
Halting the progression of MD
Improving cosmetic appearance
Maintaining movement and function in the upper limbs and chest
Increasing life expectancy
If you or your child may benefit from having surgery you will be referred to Dr. B C Shah to discuss the procedure and the risks involved.
Other kinds of surgery may be used to treat specific symptoms. For example, if you have ptosis (droopy eyelids) caused by oculopharyngeal MD, surgery can successfully lift the eyelids away from your eyes and restore your vision. Several treatments are also available for dysphagia(difficulty swallowing).
Treating heart complications
Some types of MD can affect the heart muscles and the muscles used for breathing. When the condition has progressed to this stage it can become life-threatening.
It is important that your heart function is assessed regularly once MD has been diagnosed. For Duchenne and Becker MD, a magnetic resonance imaging (MRI) scan or an echocardiogram (ECG) should be carried out about once a year to check for any damage.
If any damage to your heart is detected you may be referred to a cardiologist (a heart specialist) for tests every three months. You may also be prescribed medication to treat your heart problems. ACE inhibitors relax your arteries, making it easier for your heart to pump blood around your body. Beta-blockers can control irregular heart beats (arrythmias) and make it easier for your heart to work.
In some cases of myotonic MD, a pacemaker may be fitted to correct an irregular heartbeat. A pacemaker is a small, battery-operated device that can be implanted into your chest to regulate your heartbeat.
New research
New ideas for MD treatments are currently being developed. Dr. B C Shah treating you may also know of any recent developments that might benefit you.
Speak to Dr. B C Shah if you are interested in taking part in a clinical trial (a form of research that tests one treatment against another).
Some examples of current research ideas are explained below.
Stem cell research
Stem cells are cells that are at an early stage of development. This means they have the ability to turn into any type of cell in the body. Some research is currently focusing on whether stem cells can be turned into muscle cells and used to regenerate damaged muscle tissue.
Exon skipping
In the future, ‘exon skipping’ may be a way of treating Duchenne MD. Exons are sections of genetic coding (DNA) that contain information for proteins. In Duchenne and Becker MD, some of the exons are missing or duplicated, which can interfere with the dystrophin protein being produced.
Researchers are currently investigating ways of ‘skipping’ additional exons in the dystrophin gene. This could mean that more dystrophin would be produced, reducing the severity of MD symptoms.
The trials at the moment are focused on treatment that would apply to Duchenne MD but it may become applicable to Becker MD in the future.
Genetic testing for muscular dystrophy
Genetic testing may be useful for prospective parents who have a family history of MD and are worried about passing the condition on.
Speak to Dr. B C Shah, who can refer you for genetic screening and counselling.
Genetic testing
Genetic testing can be used to:
Identify carriers of the condition
Perform a prenatal diagnosis (where a foetus is tested during pregnancy)
Identifying carriers
Some types of MD are carried without causing clear signs of the condition. This applies to recessive inherited disorders, sex-linked conditions and even some dominant conditions (particularly myotonic dystrophy). Genetic testing can determine who is carrying the disorder.
For example, a woman with a family history of Duchenne MD but no symptoms herself may be carrying the gene that causes it. DNA can be taken from cells in the blood, saliva or tissue. The DNA in the relevant gene can then be tested to find out if she is carrying the faulty gene.
If you or your partner are a carrier of MD and are at risk of passing the condition on to your child, your genetic counsellor will discuss your options with you.
Prenatal diagnosis
Genetic testing can be used for prenatal diagnosis. This is when a baby is diagnosed with MD before it is born, using tests that are carried out during pregnancy. If you are pregnant and there is a possibility that your unborn baby has MD, you may be offered tests.
There are two main ways of performing these tests. One is chorionic villus sampling (CVS). This is when tissue from the placenta is removed for analysis early. This is often at less than 11 weeks into the pregnancy.
The other method is amniocentesis, which is not usually carried out until 15-16 weeks. In amniocentesis a needle is inserted into your abdomen to take a sample of amniotic fluid (the fluid that surrounds the foetus in the womb). This fluid contains cells that have been shed by the foetus. Both tests carry a risk of causing miscarriage.
The cells from the foetus can be tested to determine whether they have the genetic mutation that is responsible for MD. If they do, the baby is likely to develop MD at some stage after birth. If this is the case your genetic counsellor will be able to discuss your options with you.
Be aware that there are limitations to this kind of diagnosis. Tests can give misleading results or unexpected, unanticipated results. It is important to discuss prenatal testing and the meaning of the possible results before going ahead with the procedure.
A normal test result does not ensure that the baby will be healthy. The test only looks for the particular type of MD in the family but not for all other possible problems. Prenatal diagnosis can only be performed if there is a precise genetic diagnosis of the family’s condition.
- See more at: http://drbcshah.com/muscular-dystrophy/#sthash.Iu7mxq23.dpuf
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Multiple Sclerosis
Posted by on Thursday, 28th February 2013
Introduction
Multiple sclerosis (MS) is a disease affecting nerves in the brain and spinal cord, causing problems with muscle movement, balance and vision.
Each nerve fibre in the brain and spinal cord is surrounded by a layer of protein called myelin, which protects the nerve and helps electrical signals from the brain travel to the rest of the body. In MS, the myelin becomes damaged.
This disrupts the transfer of these nerve signals, causing a wide range of potential symptoms, such as:
Loss of vision – usually only in one eye
Spasticity – muscle stiffness that can lead to uncontrolled muscle movements
Ataxia – difficulties with balance and co-ordination
Fatigue – feeling very tired during the day
Types of multiple sclerosis
Around 8 out of 10 people with MS will have the relapsing remitting type of MS.
Someone with relapsing remitting MS will have periods of time where symptoms are mild or disappear altogether. This is known as remission and can last for days, weeks or sometimes months.
Remission will be followed by a sudden flare-up of symptoms, known as a relapse. Relapses can last from a few weeks to few months.
Usually after around 10 years, around half of people with relapsing remitting MS will go on to develop secondary progressive MS.
In secondary progressive MS, symptoms gradually worsen and there are fewer or no periods of remission.
The least common form of MS is primary progressive MS. In this type, symptoms gradually get worse over time and there are no periods of remission.
Treatment
There is currently no cure for MS but there are a number of treatments that can help.
Relapsing remitting MS and secondary progressive MS can be treated with disease-modifying drugs. These are designed to slow the progression of the disease and reduce the number of relapses. But they are not suitable for all people with MS.
For example at the moment, there is no treatment that can slow the progress of primary progressive MS.
There are also a wide range of treatments, including steroid injections and physiotherapy, that can help relieve symptoms and make day-to-day living easier.
Causes
MS is known as an autoimmune condition. This is where something goes wrong with the immune system (the body’s defence against infection) and it mistakenly attacks healthy body tissue – in this case, the myelin covering of nerves.
This can cause multiple sections of the brain and spinal column to become damaged and hardened (sclerosis), which can disrupt the nerve signals passing through these areas.
Exactly what causes the immune system to act in this way is unclear, but most experts think a combination of genetic and environmental factors are involved.
Who is affected
Symptoms usually first develop between the ages of 15 and 45, with the average age of diagnosis being about 30.
For reasons that are unclear, MS is twice as common in women than men, and more common in white people than black and Asian people
Outlook
MS can be a challenging and frustrating condition to live with but new treatments over the past 20 years have considerably improved the quality of life of people with the disease.
MS is not fatal, but some complications which can arise from more severe MS, such as pneumonia, can be.
As a result, the average life expectancy for people with MS is around 10 years lower than the population at large.
Symptoms of multiple sclerosis
The central nervous system (brain and spinal cord) controls all of your body's actions. When MS damages the nerve fibres that carry messages to and from your brain, symptoms can occur in any part of your body.
There are many different symptoms of MS and they affect each person differently. Some of the most common symptoms include:
Numbness and tingling
Blurring of vision
Problems with mobility and balance
Muscle weakness and tightness
Most people with MS only have a few of these symptoms and it is unlikely someone would develop all possible symptoms.
The symptoms are unpredictable. Some people's MS symptoms develop and increase steadily over time, while for others, they come and go periodically.
Periods when symptoms get worse are known as relapses. Periods when symptoms improve or disappear are known as remissions.
Visual problems
In around one in five cases of MS, the first noticeable symptom is problems with one of your eyes. You may experience:
Some loss of vision in the affected eye – this can range from mild to severe (total loss of vision occurs in 1 in 35 cases)
Colour blindness
Eye pain; usually made worse when moving the eye
Flashes of light when moving the eye
These symptoms are the result of optic neuritis, which is inflammation (swelling) of the optic nerve that transmits visual information to the brain. This normally only affects one eye.
Other visual problems that can occur in MS include:
Double vision
Eye pain in both eyes
Involuntary eye movements (usually from side to side), known as nystagmus
Abnormal sensations
Abnormal sensations can also be a common initial symptom of MS. This can take the form of numbness or tingling in different parts of your body.
Muscles in your arms and legs may also feel unusually weak.
Muscle spasms and spasticity
MS can damage nerve fibres in your brain and spinal cord, which can cause muscles to contract tightly and painfully (spasm). Your muscles may also become stiff and resistant to movement, which is known as spasticity.
Pain
Around half of people with MS experience pain, which can take two forms:
Neuropathic pain – caused by damage to the nerve fibres in the brain and spinal cord. It can be a stabbing pain, extreme skin sensitivity, or a burning sensation.
Musculoskeletal pain – this is not caused directly by MS, but can occur if there is excess pressure on muscles or joints as a result of spasms and spasticity.
Mobility problems
MS can affect balance and co-ordination. It can make walking and moving around difficult, particularly if you also have muscle weakness and spasticity. You may experience:
Ataxia – difficulty with co-ordination
Tremor – shaking of the limbs, which is rare, but can be severe
Dizziness and vertigo can happen late on and can make you feel as if your surroundings are spinning
Extreme tiredness (fatigue)
Feeling extremely tired (fatigue) is a common symptom of MS that many people describe as one of the most troublesome.
It is estimated as many as 9 out of 10 people with MS will experience episodes of fatigue.
People with MS have reported feeling an overwhelming sense of weariness where even the most simple physical or mental activity seems to be a tremendous struggle to carry out.
Fatigue may be worse in hot weather, after exercising, or during illness.
Problems with thinking, learning and planning
Around half of people with MS have problems with thinking, learning and planning (known as cognitive dysfunction) in the early stages of the disease. They may experience:
Problems understanding and using language
A shortened attention span
Problems learning and remembering new things (long-term memory is usually unaffected)
Problems understanding and processing visual information, such as reading a map
Difficulty with planning and problem solving – people often report that they know what they want to do, but can’t grasp the method of how to do it
Problems with reasoning, such as mathematical laws or solving puzzles
Mental health issues
Around half of all people with MS experience at least one episode of depression at some point in their life.
It is unclear whether the depression arises from the damage to the brain caused by MS, or due to the stress of having to live with a long-term condition, or both.
Anxiety can also be a problem for people with MS, especially during the start of a relapse, as they are naturally anxious about the return of their symptoms.
Some people with MS can sometimes experience rapid and severe mood swings, suddenly bursting into tears, laughing or shouting angrily for no apparent reason.
Sexuality
Many people with MS lose interest in sex.
Men with MS often find it hard to obtain or maintain an erection (erectile dysfunction). They may also find it takes a lot longer to ejaculate when having sex or masturbating, and may even lose the ability to ejaculate altogether.
Women may find it more difficult to achieve orgasm.
Bladder problems
Bladder problems are common in MS.
These may include:
Difficulty emptying the bladder completely
Having to urinate more frequently
Having a sudden, urgent need to urinate which can lead to unintentionally passing urine (urge incontinence)
Having to get up frequently during the night to pass urine (nocturia)
Constipation
Constipation affects around half of people with MS. They may pass stools much less frequently than normal, and find this difficult.
Severe constipation can lead to faecal impaction, where a large, solid stool becomes stuck in the back passage (rectum) and begins to stretch the muscles of the rectum, weakening them. This can cause loss of normal bowel control (bowel incontinence), where watery stools leak out.
Causes of multiple sclerosis
Multiple sclerosis (MS) occurs because of damage to the nerve fibres of the central nervous system. Your central nervous system consists of the brain and spinal cord and is responsible for controlling every action, conscious and unconscious, of your body.
Myelin
When you perform an action, your brain sends messages to the appropriate part of your body through the nerve fibres in your spinal cord. These nerve fibres are covered by a substance called myelin. Myelin insulates the nerve fibres and helps carry messages to and from your brain quickly and smoothly. In MS, the myelin around your nerve fibres becomes damaged. This disturbs the messages coming to and from your brain.
Autoimmune condition
MS is an autoimmune condition. This means your immune system mistakes the myelin for a foreign substance and attacks it. The myelin becomes inflamed in small patches (called plaques or lesions), which can be seen on an MRI scan. This process is called demyelination.
Demyelination disrupts the messages travelling along nerve fibres. It can slow them down, jumble them, accidentally send them down a different nerve fibre, or stop them from getting through completely.
When the inflammation goes away, it can leave behind scarring of the myelin sheath (known as sclerosis) and sometimes damage to the underlying nerve cell.
Why do people develop multiple sclerosis?
It is not understood what causes the immune system to attack myelin, although there are several theories. Most experts agree that MS is probably caused by a combination of genetic and environmental factors. This means it's partly due to genes you inherit from your parents and partly due to outside factors that may trigger the condition.
Genetic factors
MS is not defined as a genetic condition because there is no single gene that causes it. It's not directly inherited, although research has shown people who are related to someone with MS are more likely to develop it.
Researchers have found that if one twin develops MS then the second twin has around a one in four chance of also developing MS.
The chances of a brother, sister, or child of a person with MS also developing MS themselves is less than 1 in 30.
It's possible that different combinations of genes make developing MS more likely, and research into this is continuing. However, genetic theories cannot explain the wide variation in occurrences of MS throughout the world.
Sunlight and vitamin D
Research into MS around the world has shown that it's more likely to occur in countries far from the equator. For example, MS is relatively common in the UK, North America and Scandinavia, but rare in Malaysia or Ecuador.
It’s possible that people living further from the equator are exposed to less sunlight and, therefore, have less vitamin D in their bodies. Some studies have found a link between lower levels of vitamin D and incidence of MS.
Some researchers have suggested that vitamin D supplements may reduce the risk of MS. However, this has not been proven.
Viral infection
Another theory is that MS may be the result of viral infection of the nervous system and /or the immune system.
The idea is that the virus lies dormant for many years and then periodically ‘re-awakens’, triggering an autoimmune response against the nervous system.
This could explain the relapse-remission nature of most cases of MS.
A virus called the Epstein-Barr virus (EBV) is known to act in this way, but there is currently no firm evidence that EBV, or any other virus, is responsible for MS.
Problems with blood flow
A new and controversial theory is that some cases of MS may actually be due to problems with the flow of blood inside the body.
The idea is that some people may have narrowing of veins inside their brain and spinal cord and the blood supply from the brain and spine has trouble returning to the heart (known as cerebrospinal venous insufficiency).
This could lead to a build-up of tiny iron deposits inside nerve tissue, which may damage the nerves and /or trigger an immune response.
Some studies have found higher-than-expected levels of cerebrospinal venous insufficiency in people with MS, but others have not.
Further research is ongoing looking at larger groups of people and using more sophisticated brain imaging scanning.
Diagnosing multiple sclerosis
If you have unexplained symptoms that are similar to those of multiple sclerosis (MS), see Dr. B C Shah. If Dr. B C Shah suspects MS, they will ask you for a detailed medical history, including past signs and symptoms as well as the current state of your health.
Dr. B C Shah can refer you to a neurologist (a specialist in conditions of the central nervous system).
If Dr. B C Shah suspects MS, you should see a neurologist within six weeks.
Diagnostic tests
Diagnosing MS is complicated because no single laboratory test can positively diagnose it.
Several conditions have symptoms similar to those of MS, so your neurologist may rule them out first.
It may also not be possible to confirm a diagnosis if you have had only one ‘attack’ of MS-like symptoms. A diagnosis can usually only be made with confidence once a person has a relapse (return of symptoms).
To confirm MS, your neurologist may carry out a number of tests.
Neurological examination
Your neurologist will look for changes or weakness in your eye movements, leg or hand co-ordination, balance, speech and reflexes. This will show whether your nerve pathways are damaged.
Magnetic resonance imaging (MRI) scan
An MRI scan creates a detailed image of your brain and spinal cord.
MRI scans can show whether there is any damage or scarring of the myelin in your central nervous system. Over 9 out of 10 people with MS are diagnosed using an MRI scan.
The procedure is painless and usually takes between 10 and 30 minutes. A standard MRI scanner is like a giant tube or tunnel. You may feel claustrophobic when going into the tunnel and the machine is noisy.
Tell your neurologist if you have any concerns about this experience.
Evoked potentials test
An evoked potentials test involves placing small electrodes on your head. These monitor how your brain waves respond to what you see and hear. It is painless and can show whether it takes your brain longer than normal to receive messages.
Lumbar puncture
A lumbar puncture is also sometimes called a spinal tap. A sample of your cerebrospinal fluid (the fluid that surrounds your brain and spinal cord) is taken using a needle inserted into the area around your spinal cord.
This is done under local anaesthetic, which means that you will be awake but the area that the needle goes into will be numbed. The sample is tested for antibodies, the presence of which means that your immune system has been fighting a disease in your central nervous system.
A lumbar puncture is usually only needed if other tests for MS are inconclusive.
Blood tests
Blood tests are usually performed to rule out other causes of your symptoms, such as vitamin deficiencies. In addition, antibody tests may be required, for example to rule out a special type of MS called Devic's disease.
Diagnosing the different types of multiple sclerosis
Once a diagnosis of MS has been made, your neurologist may be able to identify which type of MS you have.
However, this often only becomes clear over time as the symptoms of MS are so varied and unpredictable.
A diagnosis of relapsing remitting multiple sclerosis (RRMS) may be made if:
You have two relapses of your symptoms more than 30 days apart
You have one relapse and an MRI scan shows new myelin damage or scarring three months later
A diagnosis of secondary progressive multiple sclerosis (SPMS) may be made if:
You have had relapses of your symptoms in the past
You have become steadily more disabled for at least six months, with or without relapses
A diagnosis of primary progressive multiple sclerosis (PPMS) may be made if you have had no previous relapses of your symptoms, and:
You have become steadily more disabled for at least one year
An MRI scan shows damage and scarring to myelin
a lumbar puncture shows antibodies in the fluid surrounding your brain and spinal cord
Treating multiple sclerosis
Multiple sclerosis (MS) is a complex disorder that can impact on many aspects of your life so you will need to receive treatments from Dr. B C Shah and his team working together.
Members of your care team may include:
A neurologist (a specialist in treating conditions that affect the nervous system)
A physiotherapist
A speech and language therapist
An occupational therapist
An incontinence adviser
A psychologist
A pharmacist
A specialist MS nurse who will often serve as a point of contact
Living with multiple sclerosis
A diagnosis of MS is life changing. You may need long-term treatment to control your symptoms and you may have to adapt your daily life.
Self-care
Self-care is an integral part of daily life. It means you take responsibility for your own health and wellbeing, with support from people involved in your care. Self-care includes the things you do each day to stay fit, maintain good physical and mental health, prevent illness or accidents, and effectively deal with minor ailments and long-term conditions. People living with long-term conditions can benefit enormously if they receive support for self-care. They can live longer, have less pain, anxiety, depression and fatigue, have a better quality of life, and be more active and independent.
Regular reviews
Because MS is a long-term condition, you'll be in regular contact with your healthcare team. A good relationship with the team means you can easily discuss your symptoms or concerns. The more the team knows, the more they can help you.
Keeping well
Everyone with a long-term condition such as MS is encouraged to get a flu jab each autumn to protect against flu (influenza). It's also recommended that they get an anti-pneumoccocal vaccination. This is a one-off injection that protects against a specific serious chest infection called pneumococcal pneumonia.
Healthy eating and exercise
Regular exercise and a healthy diet are recommended for everyone, not just people with MS. They help prevent many conditions, including heart disease and many forms of cancer. Try to eat a balanced diet, containing all the food groups, to give your body the nutrition it needs. Exercising regularly can help relieve stress and reduce fatigue.
- See more at: http://drbcshah.com/multiple-sclerosis/#sthash.zxPQWCHW.dpuf
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