What is Muscular Dystrophy?
Muscular Dystrophy (MD) is a group of inherited disorders that cause progressive muscle weakness and degeneration. In children, the most common type is Duchenne Muscular Dystrophy (DMD), which primarily affects boys and often begins before age 5. Over time, children may struggle with walking, balance, and daily motor activities.
What Causes Muscular Dystrophy?
Muscular Dystrophy is caused by mutations in genes responsible for muscle function, particularly the dystrophin gene. Without this crucial protein, muscle cells become damaged and gradually weaken.
It is often inherited in an X-linked recessive pattern, especially in Duchenne and Becker types.
Symptoms of Muscular Dystrophy
- Delayed motor milestones (e.g., walking)
- Frequent falls
- Trouble climbing stairs or rising from the floor
- Enlarged calf muscles
- Muscle pain or stiffness
- Progressive loss of mobility
How is Muscular Dystrophy Diagnosed?
- Clinical Examination
- Blood tests: High levels of creatine kinase (CK)
- Genetic testing: To confirm gene mutation
- Muscle biopsy (if needed)
- Electromyography (EMG) and MRI
Treatment Options for Muscular Dystrophy
There is no cure, but early intervention helps manage symptoms:
- Steroids (e.g., prednisone)
- Physiotherapy to maintain mobility
- Braces or mobility aids
- Respiratory and cardiac care
- Gene therapy and exon-skipping drugs (under trial or early approval)
FAQs About Muscular Dystrophy
Q. Is Muscular Dystrophy curable?
A. There is no cure, but treatments can significantly slow progression and improve quality of life.
Q. Can girls get MD?
A. Girls can be carriers and may have milder symptoms in rare cases.
Q. When should treatment start?
A. As early as possible—early intervention leads to better outcomes.
Consult Dr. Neelu Desai – Pediatric Neurologist, Mumbai
022 67668181 / 022 45108181