What is Muscular Dystrophy
Muscular dystrophy is a rare inherited disorder in which the muscles would become weak day by day. Since the muscle fibers are weak they are prone to damage. The symptoms of this disease begin in early childhood and will progressively proceed causing more and more damage as the child becomes an adult. Very often the person affected with muscular dystrophy will have restricted movement and he/she must confine with wheel chair even for completing routine tasks.
Many people with this disorder will have difficulty in eating and breathing. Though there is no cure for muscular dystrophy still medications are available to slow down its course and to give relief for the symptoms. Very often the muscles of face, legs, arms and spine are affected. Over years the muscles get so damaged and shrink that it becomes impossible for the person to move.
Types :
Some of the different kinds of muscular dystrophy are myotonic dystrophy, Emery Dreifuss dystrophy, Duchenne muscular dystrophy, oculopharyngeal dystrophy, Becker’s dystrophy and distal muscular dystrophy. Among these, Duchenne muscular dystrophy occurs commonly. Each of the above type has different set of symptoms and variation in muscle weakness. Some types would also involve and damage other tissues apart from the muscle fibers.
Symptoms :
Muscular weakness is the prominent symptom of muscular dystrophy. The muscle fibers become weaker and weaker affecting more of muscle groups as the disease progresses. Most common kind of muscular dystrophy is Duchenne dystrophy which is more common in boys than girls. Some of the early signs of this disorder are difficulty in getting up from sitting position for the child, frequent falls, and difficulty in running, specific gait, developing large calf muscles and in some cases it would cause learning disability.
Though some of the symptoms are visible in early childhood still the signs are fully evident when the child reaches adolescence. The affected person will have stiffness in his joints and there can be problem in mobility. His muscles will not balance the required movement causing frequent falls and clumsiness while walking.
Causes :
Muscular dystrophy is a genetic disorder. Every muscle fiber in our body is formed out of thousands of proteins which involves hundreds of genes. Due to defective gene mutation the required proteins are not available for the right formation of muscle causing weakened muscles. A protein by name dystrophin is essential for the normal development of strong muscles. But in muscular dystrophy children the genes become defective undergoing mutation not producing sufficient quantities of dystrophin.
Why men are more affected than women?
The reason why boys are more affected with muscular dystrophy than girls can be explained as follows:-
Each woman will have 2 X chromosomes but a man will have one X and one Y chromosome. It is the X chromosome that is responsible for producing dystrophin protein and Y chromosome cannot make a copy of gene that produces dystrophin. If a woman has defective gene in her cell the offspring (child) will receive XX chromosome if the child is a girl and will have XY chromosome if he is a boy.
Now the girl with one defective X chromosome can develop strong muscles since the other X chromosome can produce the required quantities of protein dystrophin. But in the case of boy baby (XY) who has only one X chromosome have less chance to develop strong muscles. Again the boy baby will develop muscular disease if his genes contain defective X chromosomes and the girl baby will be healthy but still become a carrier of defective gene which she may pass on to the next generation. In case a woman inherits the defective gene she should be tested when she is ready for pregnancy and counseled so that she should not pass on the disease to her child.
Who are at risk?
Muscular dystrophy can develop in any child irrespective of age and sex but is common in boys. Individual with family history of muscular dystrophy is likely to develop this problem in later ages or he has maximum chance to pass on the disease to his child.
Complications :
In severe cases muscular dystrophy can be serious when the muscles related with breathing are affected. The affected person may die suddenly due to respiratory failure before he becomes 40 or 45 years. Some kinds of dystrophy can seriously affect the normal functioning of heart muscles causing difficulty in swallowing leading to nutritional deficiency.
In most of the cases, mobility becomes a great problem with this disease. Very often people will have to depend on wheel-chair even for essential movements. Frequent usage of wheelchair can worsen the joints and tissues related with movements leading to contraction of limbs. In some cases contractures can cause scoliosis affecting the spinal cord also.
Tests :
It is easy to diagnose muscular dystrophy in childhood or adolescence by observing the above symptoms. Your doctor will order for enzyme test for checking the presence of CK creatine kinase in the blood indicating muscular dystrophy. He may order for electromyography for checking the muscular function. If needed, he may do a biopsy of the affected muscle by removing a small sample and analyzing it in the lab.
Treatment :
There is no permanent cure for muscular dystrophy since the disease is inherited. But drugs and therapy can be given to manage the deformities and reduce the progression of the symptoms. Corticosteroids like prednisone are prescribed for developing muscle strength. This drug will also delay the dystrophy in large extent but prolonged use of corticosteroid can weaken the bones and cause many side effects. Various therapeutic procedures are recommended to improve the mobility of joints and muscles. Physiotherapy is highly effective in sustaining the movements of muscles and joints by practicing range of movement exercises.
The affected person can use devices like walkers and canes to maintain movements and to carry out the day to day tasks. Your doctor would suggest regular breathing exercises to improve the functioning of respiratory muscles since it can arrest your breathing in the long run. In severe cases the person will have to use artificial respiration using a ventilator machine. Surgery is done for correcting irreparable damage to the muscles in the case of contractures (for loosening the joints) and scoliosis (spine surgery to prevent lung problems).
Life can become challenging if one is seriously affected with muscular dystrophy. Coping with this disease involves plenty of money as well as emotional support from the family and friends. This disease can affect your life in classroom and office and even with your relationships at home. It is good to stay connected with support groups to get more ideas to overcome your problems in life.
Prevention :
Couples who are carriers of defective genes should undergo counseling and think about adopting a healthy child. It is the only way to prevent muscular dystrophy in future generations.
Muscular dystrophy is a rare inherited disorder in which the muscles would become weak day by day. Since the muscle fibers are weak they are prone to damage. The symptoms of this disease begin in early childhood and will progressively proceed causing more and more damage as the child becomes an adult. Very often the person affected with muscular dystrophy will have restricted movement and he/she must confine with wheel chair even for completing routine tasks.
Many people with this disorder will have difficulty in eating and breathing. Though there is no cure for muscular dystrophy still medications are available to slow down its course and to give relief for the symptoms. Very often the muscles of face, legs, arms and spine are affected. Over years the muscles get so damaged and shrink that it becomes impossible for the person to move.
Types :
Some of the different kinds of muscular dystrophy are myotonic dystrophy, Emery Dreifuss dystrophy, Duchenne muscular dystrophy, oculopharyngeal dystrophy, Becker’s dystrophy and distal muscular dystrophy. Among these, Duchenne muscular dystrophy occurs commonly. Each of the above type has different set of symptoms and variation in muscle weakness. Some types would also involve and damage other tissues apart from the muscle fibers.
Symptoms :
Muscular weakness is the prominent symptom of muscular dystrophy. The muscle fibers become weaker and weaker affecting more of muscle groups as the disease progresses. Most common kind of muscular dystrophy is Duchenne dystrophy which is more common in boys than girls. Some of the early signs of this disorder are difficulty in getting up from sitting position for the child, frequent falls, and difficulty in running, specific gait, developing large calf muscles and in some cases it would cause learning disability.
Though some of the symptoms are visible in early childhood still the signs are fully evident when the child reaches adolescence. The affected person will have stiffness in his joints and there can be problem in mobility. His muscles will not balance the required movement causing frequent falls and clumsiness while walking.
Causes :
Muscular dystrophy is a genetic disorder. Every muscle fiber in our body is formed out of thousands of proteins which involves hundreds of genes. Due to defective gene mutation the required proteins are not available for the right formation of muscle causing weakened muscles. A protein by name dystrophin is essential for the normal development of strong muscles. But in muscular dystrophy children the genes become defective undergoing mutation not producing sufficient quantities of dystrophin.
Why men are more affected than women?
The reason why boys are more affected with muscular dystrophy than girls can be explained as follows:-
Each woman will have 2 X chromosomes but a man will have one X and one Y chromosome. It is the X chromosome that is responsible for producing dystrophin protein and Y chromosome cannot make a copy of gene that produces dystrophin. If a woman has defective gene in her cell the offspring (child) will receive XX chromosome if the child is a girl and will have XY chromosome if he is a boy.
Now the girl with one defective X chromosome can develop strong muscles since the other X chromosome can produce the required quantities of protein dystrophin. But in the case of boy baby (XY) who has only one X chromosome have less chance to develop strong muscles. Again the boy baby will develop muscular disease if his genes contain defective X chromosomes and the girl baby will be healthy but still become a carrier of defective gene which she may pass on to the next generation. In case a woman inherits the defective gene she should be tested when she is ready for pregnancy and counseled so that she should not pass on the disease to her child.
Who are at risk?
Muscular dystrophy can develop in any child irrespective of age and sex but is common in boys. Individual with family history of muscular dystrophy is likely to develop this problem in later ages or he has maximum chance to pass on the disease to his child.
Complications :
In severe cases muscular dystrophy can be serious when the muscles related with breathing are affected. The affected person may die suddenly due to respiratory failure before he becomes 40 or 45 years. Some kinds of dystrophy can seriously affect the normal functioning of heart muscles causing difficulty in swallowing leading to nutritional deficiency.
In most of the cases, mobility becomes a great problem with this disease. Very often people will have to depend on wheel-chair even for essential movements. Frequent usage of wheelchair can worsen the joints and tissues related with movements leading to contraction of limbs. In some cases contractures can cause scoliosis affecting the spinal cord also.
Tests :
It is easy to diagnose muscular dystrophy in childhood or adolescence by observing the above symptoms. Your doctor will order for enzyme test for checking the presence of CK creatine kinase in the blood indicating muscular dystrophy. He may order for electromyography for checking the muscular function. If needed, he may do a biopsy of the affected muscle by removing a small sample and analyzing it in the lab.
Treatment :
There is no permanent cure for muscular dystrophy since the disease is inherited. But drugs and therapy can be given to manage the deformities and reduce the progression of the symptoms. Corticosteroids like prednisone are prescribed for developing muscle strength. This drug will also delay the dystrophy in large extent but prolonged use of corticosteroid can weaken the bones and cause many side effects. Various therapeutic procedures are recommended to improve the mobility of joints and muscles. Physiotherapy is highly effective in sustaining the movements of muscles and joints by practicing range of movement exercises.
The affected person can use devices like walkers and canes to maintain movements and to carry out the day to day tasks. Your doctor would suggest regular breathing exercises to improve the functioning of respiratory muscles since it can arrest your breathing in the long run. In severe cases the person will have to use artificial respiration using a ventilator machine. Surgery is done for correcting irreparable damage to the muscles in the case of contractures (for loosening the joints) and scoliosis (spine surgery to prevent lung problems).
Life can become challenging if one is seriously affected with muscular dystrophy. Coping with this disease involves plenty of money as well as emotional support from the family and friends. This disease can affect your life in classroom and office and even with your relationships at home. It is good to stay connected with support groups to get more ideas to overcome your problems in life.
Prevention :
Couples who are carriers of defective genes should undergo counseling and think about adopting a healthy child. It is the only way to prevent muscular dystrophy in future generations.
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