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 the structure and function of muscle proteins, leading to muscle fibre damage over time.

Types of Muscular Dystrophy

There are more than 30 types of muscular dystrophy, but the most common include:

1. Duchenne Muscular Dystrophy

Most common and severe type.
Onset: Early childhood (2-6 years).
Symptoms: Rapid progression, loss of mobility, respiratory and cardiac issues.

2. Becker Muscular Dystrophy

Milder than
Onset: Adolescence or early adulthood.
Symptoms: Slower progression, affecting the hips, thighs, and pelvis.

3. Myotonic Dystrophy

Affects both muscles and other body systems like the heart and eyes.
Onset: Adolescence or adulthood.
Symptoms: Muscle stiffness, weakness, and difficulty relaxing muscles after use.

4. Facio-scapulo-humeral Dystrophy

Affects facial, shoulder, and upper arm muscles.
Onset: Adolescence or early adulthood.
Symptoms: Difficulty lifting arms and closing eyes.

5. Limb-Girdle Muscular Dystrophy

Affects the shoulder and pelvic girdles.
Onset: Childhood to adulthood.
Symptoms: Weakness in upper arms and thighs.

6. Congenital Muscular Dystrophy

Present at birth or early infancy.
Symptoms: Muscle weakness, joint deformities, and delayed milestones.

7. Emery-Dreifuss Muscular Dystrophy

Affects skeletal and cardiac muscles.
Onset: Childhood to adolescence.
Symptoms: Joint contractures, muscle weakness, and cardiac issues.

Causes of Muscular Dystrophy

Muscular dystrophy is primarily caused by genetic mutations that disrupt the production of proteins essential for muscle health.

1. Genetic Mutations

Mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophy.
Other genes affected depend on the specific type of Muscular Dystrophy.

2. Inheritance Patterns

X-linked recessive: Duchenne and Becker Muscular Dystrophy (more common in males).
Autosomal recessive or dominant: Limb-Girdle and other types.

Symptoms of Muscular Dystrophy

Symptoms vary depending on the type, but common signs include:

1. Muscle Weakness

Progressive weakness starting in specific muscle groups (e.g., legs, arms, face).

2. Motor Delays

Difficulty walking, running, or climbing stairs.
Frequent falls or waddling gait.

3. Muscle Wasting and Contractures

Muscle atrophy and joint deformities over time.

4. Cardiorespiratory Issues

Breathing difficulties and heart problems in advanced stages.

5. Other Symptoms

Difficulty swallowing.
Fatigue and scoliosis (curved spine).

Diagnosis of Muscular Dystrophy

Clinical Examination

Assessment of muscle strength, reflexes, and movement patterns.

Genetic Testing

Identifies specific gene mutations associated with MD.

Muscle Biopsy

Examines muscle tissue for abnormalities like fibrosis and fat infiltration.

Creatine Kinase (CK) Levels

Elevated CK levels in the blood indicate muscle damage.

Electromyography (EMG)

Evaluates electrical activity in muscles to detect abnormalities.

Imaging Studies

MRI or ultrasound to assess muscle degeneration and fat infiltration.

Ayurvedic Perspective on Muscular Dystrophy

In Ayurveda, muscular dystrophy can be correlated with Mamsa Dhatukshaya (degeneration of muscle tissue) or a Vata Vyadhi (neurological or musculoskeletal disorders caused by Vata Dosha imbalance).

Aggravated Vata causes depletion of Mamsa Dhatu (muscle tissue), disrupting the nourishment of subsequent tissues (Medas, Asthi, and Majja).