I. Serum Creatine Kinase (CK) Levels:
Serum CK levels are raised several folds and are a good indicator of disease activity.
Electromyography reveals typical myopathgic changes.
III. Muscle Biopsy:
Histopathology of a muscle tissue sample taken from significantly affected but not completely atrophied muscle reveals typical myopathic changes.
IV: Genetic Studies:
Molecular genetic studies provide definitive diagnosis.
Corticosteroids have been known to arrest the disease progression and prolong the patient’s mobility period.
II. Supportive Treatment:
Supportive treatment includes prevention of development of complications such as contractures and respiratory & cardiac failure. It also involves provision of supportive equipment and assistive devices such as braces to prevent contractures, orthosis for scoliosis and wheel chair for mobility.
III. Gene Therapy:
Gene therapy seems to be a promising treatment for these patients in the future.