Pseudohypertrophic muscular dystrophy can only be slowed down at this point in time and a cure is not yet possible. Medications and symptomatic supportive therapy may be given.
Pseudohypertrophic muscular dystrophy is the most common type of progressive muscular dystrophy and the most common and severe type in pediatrics. It is an X-linked recessive disorder due to a mutation in the gene encoding the anti-myotonic protein on chromosome Xp21, and is usually seen in males.
The most effective drug is prednisone. The mechanism of action of prednisone has not been fully elucidated and may be a reduction in cytotoxic T-cell production, anti-inflammatory effects, modulation of gene translation, increased laminin expression and myofilm repair, and control of cytosolic calcium in-flow.
Aggressive symptomatic supportive measures can help to improve the quality of life and prolong the life of the child, including encouraging and adhering to active and passive exercise to delay muscle contractures. For progressive loss of ability to stand or walk, braces are used to aid movement and exercise and to prevent spinal curvature and muscle contractures.
Patients with pseudohypertrophic muscular dystrophy are advised to seek prompt medical attention, standardize medication and symptomatic supportive therapy under the guidance of a physician and undergo regular follow-up.