Muscular Dystrophy

What is Muscular Dystrophy?

→ Muscular dystrophy is a group of genetic disorders characterized by progressive weakness and degeneration of skeletal muscles. It occurs due to mutations in genes responsible for muscle structure and function, leading to muscle fibers becoming weak and damaged over time. The condition gradually worsens and can affect mobility, posture, and in severe cases, breathing and heart function.

Causes

→ Genetic mutations affecting muscle proteins

→ Inherited from parents (X-linked or autosomal patterns)

→ Deficiency of dystrophin protein (in some types like Duchenne)

→ Family history

Symptoms

→ Progressive muscle weakness

→ Difficulty in walking and running

→ Frequent falls

→ Muscle wasting

→ Difficulty in climbing stairs

→ Gowers’ sign (using hands to stand up)

→ Respiratory and cardiac problems (in advanced stages)

Diagnosis

→ Clinical examination by doctor

→ Genetic testing

→ Muscle biopsy

→ Blood tests (increased creatine kinase levels)

→ Electromyography (EMG)

→ MRI of muscles

Treatment Management

→ No permanent cure, but progression can be slowed

→ Physiotherapy and regular exercise

→ Corticosteroids (to slow muscle degeneration)

→ Assistive devices (braces, wheelchair)

→ Respiratory support (if needed)

→ Cardiac care

→ Genetic counseling