Muscular Dystrophy

Overview of Muscular Dystrophy

Muscular Dystrophy (MD) refers to a group of inherited disorders that cause progressive weakening and degeneration of the muscles. It occurs due to abnormalities in genes responsible for muscle structure and function. Over time, patients may face difficulty walking, breathing, and even swallowing. The most well-known type is Duchenne Muscular Dystrophy (DMD), which primarily affects boys and manifests early in life. While there is no permanent cure yet, ongoing therapies and interventions can help manage symptoms, slow disease progression and enhance quality of life.

Types of Muscular Dystrophy

1. Duchenne Muscular Dystrophy (DMD): Most common and severe form, usually begins in early childhood, primarily in males.

2. Becker Muscular Dystrophy: Similar to DMD but progresses more slowly; symptoms appear in adolescence or adulthood.

3. Limb-Girdle Muscular Dystrophy: Affects muscles around hips and shoulders, can occur in children or adults.

4. Congenital Muscular Dystrophy: Present at birth; infants show low muscle tone and motor delays.

5. Facioscapulohumeral Muscular Dystrophy: Affects facial, shoulder blade, and upper arm muscles; symptoms may appear in teens or adulthood.

6. Myotonic Dystrophy: Involves prolonged muscle contractions; also affects heart, eyes, and endocrine systems.

7. Oculopharyngeal Muscular Dystrophy: Affects muscles of eyelids and throat, leading to drooping eyelids and difficulty swallowing.

8. Emery-Dreifuss Muscular Dystrophy: Characterised by joint stiffness and heart problems.

Symptoms of Muscular Dystrophy

Progressive muscle weakness and fatigue

Trouble walking or frequent falls

Difficulty climbing stairs or lifting objects

Muscle wasting or atrophy over time

Curvature of the spine (scoliosis)

Contractures or joint stiffness

Respiratory issues in advanced stages

Heart problems or arrhythmias (especially in DMD)

Drooping eyelids or facial weakness (specific types)

Causes of Muscular Dystrophy

Caused by mutations in genes responsible for muscle protein production

Mostly inherited in nature, either X-linked (like DMD), autosomal dominant, or recessive

Mutation in the dystrophin gene (in DMD) which leads to muscle damage

Some cases may be spontaneous genetic mutations

Complications in Muscular Dystrophy

Loss of ability to walk or move independently

Respiratory failure due to weakened diaphragm

Cardiomyopathy or irregular heartbeats

Difficulty swallowing leading to aspiration

Scoliosis and postural issues

Shortened life expectancy in severe types like DMD

Mental and emotional impact on patients and caregivers

Risk Factors of Muscular Dystrophy

Family history of muscular dystrophy

Gender for example DMD primarily affects males

Certain types more common in specific ethnic groups

Genetic mutations that occur spontaneously

Preventions of Muscular Dystrophy

Currently, no proven way to prevent muscular dystrophy

Genetic counseling before conception can help at-risk couples

Prenatal testing may detect some muscular dystrophy genes

Early diagnosis and intervention can slow disease progression