Duchenne Muscular Dystrophy: Diagnosis, Treatment - Diseases of the Muscles

 Duchenne Muscular Dystrophy :

This hereditary disease is a sex-linked recessive disorder of muscles related to X- chromosome which is found in about 30 per one-Iakh boys. The females do not suffer from this disease but they are the carriers of the disease. This disease is present from birth but its symptoms are noticed at the age of 3 to 4 years. The child falls while walking, has difficulty in getting up and climbing stairs with a gradual increase in weakness. The muscles of the calves get enlarged which is known as Pseudo Hypertrophy. By the age of 10 -12 the patients need to take the support of a wheel chair. These patients are highly susceptible to aggressive and life threatening infections of the lungs. Such children may suffer from slow mental growth and heart diseases.

Diagnosis :

i.               This disease is diagnosed as described below

ii.               In the blood samples increased value of enzymes like C.P.K., SGOT and Aldolase are noted.

iii.               Particular, definite changes are detected in the E.M.G test (Myopathic pattern).

iv.               Microscopic examination of muscle biopsy gives a confirmatory diagnosis.

v.               Symptoms of this disease may be seen in other male offsprings in the family, or in mother’s brothers and their sons.

Treatment :

No permanent cure has yet been discovered for this disease though steroids can control the disease to some extent. However, physiotherapy and willpower play an important role in supporting these patients. There are supportive groups like Muscular dystrophy association and D.M.D., which help the patients. Gene therapy seems to be promising in latest researches.