Q. What is Muscular Dystrophy?
Muscular Dystrophy is one of several inherited diseases characterized by progressive wasting of the skeletal muscles. There are more than 40 variations of Muscular Dystrophy.
Q. What are the types?
Of ther more than 40 muscular dystrophy variants or types known, Duchenne Muscular Dystorphy (DMD), Becker Muscular Dystrophy, Congenital Muscular Dystrophy, Limb-Gridle Muscular Dystrophy, and Facioscapulohumeral Dystrophy are some of the well known types. They are classified according to the age at onset of symptoms, the pattern of inheritance, and the part of the body primarily affected.
Q. How is it caused?
All muscular dystrophies are caused due to mutations or faults in Genes and they cause progressive muscle weakness as muscle cells break down and are gradually lost.
Q. What is Duchenne Muscular Dystrophy (DMD)?
It is one of the most common forms of the Muscular Dystrophy which affects mainly the male child (with rare exceptions), is caused due to the lack of a protein called Dystrophin in the muscle fibres caused by the defective gene. Duchenne, was first described by the French physician Guillaume Benjamin Amand Duchenne in the mid 19th Century in Paris.
Q. Any common symptoms to identify DMD?
Yes. There are common symptoms like, the affected male child finds it difficult to get up and walk at the age of 1 to 3 years and are unable to run, jump or play like the other children of his age. They often find it hard to climb the stairs. This can be termed as Gower's Sign. The other symptom may be the swelling of the calf muscles, termed as Hypertrophy.
Q. How serious does it affect the child?
The condition of the child is very serious, with the child finding it difficult to get up and walk at the age of 1 to 3 years, unable to perform physically like their peers.
As the condition progresses children with DMD are unable to walk far or fast as other children and occasionally fall down. With the progress of the disease further, the children become wheelchair bound and by the time they reach their teens and twenties the condition worsens to shorten their life span.
Q. Does it in anyway affect the intelligence or speech and language of the child?
Most of the time, NO. Most of the DMD children are normal intellectually. In a very small proportion of children, mental retardation may occur. Speech and language are usually not affected.
Q. Does it affect the vision, hearing or feeding and swallowing of a child?
No. it does not affect the vision, hearing or feeding and swallowing.
Q. What are the other complications that can occur in these children?
Respiratory muscle weakness with poor cough response, Cardiomyopathy problems with the muscles that help pumping the blood in the heart, scoliosis or bending of the spine usually occurs during adolescence, which can aggravate the already poor lung function.
Q. How common is it?
DMD occurs with an incidence of about 1 in every 3500 live male children born. The number of DMD affected children has been on the rise in the recent years in India too.
Q. Is there any treatment?
Unfortunately, there is no known treatment or cure discovered yet for muscular dystrophy. Even though there are supportive measures and physiotherapy exercises which can improve life and preserve mobility for as long as possible, no treatment is known which affects the actual loss of muscle cells. Researches are on full swing in many centres around the world to find a cure for the disease.
Q. How can Duchenne Muscular Dystrophy be diagnosed?
Once somebody identifies that a child might be affected due to this disease, there are tests to confirm the prevalence of the disease, which are very much reliable. Muscle Biopsy (Western Blot Test, Immuno-histo-Chemistry), Electromyogram tests, Biochemistry Tests, DNA analysis, and Molecular Diagnosis patterns such as, Southern Blotting, and Multiplex PCR are certain diagnostic methods used to identify the disease. The genetic tests involve the search for actual fault in dystrophin gene.
Q. How reliable are the diagnostic procedures?
With the most reliable genetic and protein tests, the diagnosis is very clear indeed. The Becker variant of muscular dystrophy is similair to Duchenne, but appears somewhat later in life and progresses more slowly. It may be difficult in very young children to gauge severity at first but in the great majority of cases the position is clear. Protein and genetic tests can make this distinction clearer as well.
Q. Are there any alternative forms of cure like Ayurvedha, Siddha, Accupuncture, etc.?
So far none of these alternative forms of treatment have actually shown any suggestion of being able to cure the disease.
Q. How is it inherited?
Duchenne Muscular Dystrophy is caused by an X-linked gene located on the X-chromosome, which the female have two and male only one. And that's the reason why the male child is the one affected mostly. The female becomes a carrier. And a male child born to her has the possibilities of inheriting the disease. There are also numerous cases in which the male child develops a change in the gene or mutation in himself to inherit the disease, with no other member of the family carrying the affected gene.
In most of the cases the mother carries the gene but is usually not herself affected by it. They are known as 'carriers'. Each son of a carrier has a 50% chance of inheriting the gene and developing the disease, and each daughter of a carrier has a 50% chance of inheriting the gene and becoming a carrier. Only in some rare cases the carriers themselves have mild degree of muscle weakness and are termed as 'manifesting carriers.
Q. How can the carriers in the family be identified?
Even though not an easy job, it is possible for geneticists to identify from the family tree which women are at risk of being carriers. And so the most important and advisable thing to be done soon after diagnosis of a male child with DMD is to seek genetic counseling and appropriate genetic screening tests for those members of the family who are at the risk of being carriers.
Q. Can DMD be diagnosed before birth?
Once a DMD affected child is born in the family, prenatal diagnostic such as chorionic villus sampling and amniocentesis can be offered either for the mother or for other women who are found to be at risk of being carriers in future pregnancies.
Q. What other medical help will he need?
In the initial stages of the disease, right after diagnosis, very little will be the medical support needed. Active physical exercise is important, but not with medical supervision. At the same time, overdoing of physical exercises is not advisable.
At a later stage regular supervision from a clinic dealing with this condition will become increasingly important. In the early stages, your son will be monitored carefully for signs of increasing problems with his mobility, and in particular for the muscle degeneration (contractures). Physiotherapy plays an important role in helping here. At a much later stage, extra options will be discussed and planned.
For further details about physiotherapy, click here.
Q. About schooling? Can these children go to school and learn?
Definitely Yes. They all can and should be encouraged to go to school as long as possible.