How to manage Muscular dystrophy in a child?

Q: My school going male child is suffering from an unidentified disease and he is unable to walk. Physically he looks ok and the orthopedic, paediatric and neurology doctors did not find any disease. Muscle biopsy and SMA are also normal but the boy's health is deteriorating fast. At the age of 2.6 years he was able to walk; at 3 years the walking distance was reduced; at 4 years he had frequent falls; at 5 years he managed to cover only a few feet’s distance by himself and at 7 years he can’t walk even a few feet without support. He tires fast and even a simple task like writing and reading is difficult. His intelligence and social activity is as good as a normal child's. My wife is a blood relative of mine (first cousin). Kindly advise.

A:The probable diagnosis in your child's case could be a) Muscular dystrophy,b) neurodegenerative disorder.He requires to be evaluated in detail and may require to undergo some investigations too. These are available in big metropolitan cities likeDelhi, Mumbai, Chennai, Pune etc.The best place would be a Medical College Hospital or another big Hospitalin/near your city with a well developed Neurology Centre. In Delhi, theseCentrs include our own Kalawati Saran Childrens Hospital, AIIMS, and LNJPHospital among the Govt. Hospitals and Ganga Ram Hospital in the private setup.While it may not always be possible to cure these patients completely,Medicine has a lot to offer in improving their quality of life and improvingthe muscle strength. Also, some of these disorders are likely to recur insubsequent siblings too. It is, therefore, important that as far as possiblean exact diagnosis is made so that risk to subsequent children be knownexactly.