Muscular Dystrophy

Muscular dystrophy (MD) is a group of hereditary diseases that cause progressive muscle weakness. Each type of MD has its pattern of inheritance, rate of muscle atrophy, and time of onset. MD primarily affects muscle mass and is caused by defective or absent glycoproteins in the muscle membrane, which hinder the production of proteins necessary for healthy muscle formation. This genetic malfunction alters metabolic and enzymatic processes, affecting the production of muscle mass.

Aetiology

Muscular dystrophy occurs due to the absence or defectiveness of glycoproteins in the muscle membrane. In MD, abnormal genes interfere with the production of proteins essential for muscle health. Depending on the type of MD, different genes are mutated or deleted, impacting various metabolic and enzymatic processes that disturb the healthy production of muscle mass.

Types of Muscular Dystrophy (MD)

There are several types of muscular dystrophy, classified by their onset and the genetic mutations involved:

1. Duchenne Muscular Dystrophy (DMD)

   This is the most common form of MD, primarily affecting boys. Girls can be carriers or mildly affected. Symptoms, which typically emerge in early childhood, include delayed growth, frequent falls, walking on toes, muscle pain and stiffness, learning difficulties, and enlarged calf muscles.

   
   

2. Becker Muscular Dystrophy

   Symptoms are similar to DMD but progress more slowly. The condition often begins in the teenage years but can emerge later, sometimes not until the mid-20s.

   
   

3. Other Types of Muscular Dystrophy

   These types are defined by the specific features and the body parts they affect:

   a. Myotonic MD: Characterized by the inability of muscles to relax after contractions. It often affects facial and neck muscles first, leading to long, thin faces, drooping eyelids, and swan-like necks.

   b. Facioscapulohumeral MD: As the name suggests, weakness starts in the face, hips, and shoulders. The shoulder blades stick out when raising the arms. Onset usually occurs in the teenage years.

   c. Congenital MD: Present from birth or beginning by age 2. It affects both boys and girls, with slow progression.

   d. Limb-Girdle MD: Causes difficulty lifting the front part of the foot, leading to frequent tripping. It often begins in childhood or the teenage years.

Management

Although there is no cure for muscular dystrophy, appropriate treatments can alleviate symptoms, relieve pain, and improve the quality of life.

• Medical Interventions:

  Anti-arrhythmic drugs, antiepileptic drugs, NSAIDs, and steroids are commonly used.

• Surgical Interventions:

  Surgery may be required to release contractures or correct spinal deformities.

• Other Interventions:

  Supportive physiotherapy, bracing, and genetic counseling are essential components of management.

Physiotherapy

Physiotherapy plays a crucial role in managing muscular dystrophy, even though the disease is progressive and leads to muscle weakening. The focus is on strengthening the large muscles to prevent contractures and further deformities of the spine and limbs.

Physiotherapy aims at:

• Maintaining ambulation and independent mobility for as long as possible.

• Range of motion exercises and stretching, particularly for joints that tend to develop contractures earlier.

• Low-impact activities like stationary cycling and swimming/aquatic exercises.

• Supportive bracing to maintain function:

  • Moulded ankle-foot orthoses (AFOs) help with gait in individuals with foot drop, preventing tripping and providing support and comfort.

  • Lightweight plastic AFOs are especially useful for foot drop.

• Appropriate wheelchair seating and assistive technology devices.

• Non-invasive ventilation if required.

Complications

Muscular dystrophy can lead to several complications, including:

1. Breathing problems due to respiratory muscle weakness.

2. Scoliosis.

3. Swallowing difficulties.

4. Formation of contractures.

5. Difficulty walking.

6. Heart problems resulting from weakened heart muscles.

7. Cataracts.

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