Muscular Dystrophy

What’s muscular dystrophy?

Muscular dystrophy (MD) refers to a group of genetic disorders characterized by progressive muscle weakness and degeneration. The condition results from mutations in the genes responsible for muscle structure and function.

Types of Muscular Dystrophy:

1. Duchenne Muscular Dystrophy (DMD):

Age of Onset: Typically begins in early childhood.
Symptoms: Rapid progression of muscle weakness, starting with the muscles of the hips, pelvic area, and shoulders.
Genetics: Caused by mutations in the dystrophin gene located on the X chromosome.

2. Becker Muscular Dystrophy (BMD):

Age of Onset: generally begins in adolescence or early adulthood.
Symptoms: Similar to DMD but progresses more slowly. Muscle weakness starts in the pelvis and legs and can affect the heart.
Genetics: Caused by mutations in the dystrophin gene, similar to DMD but less severe.

3. Myotonic Dystrophy:

Age of Onset: Can begin in adolescence or adulthood.
Symptoms: Muscle stiffness and weakness, difficulty relaxing muscles, and other systemic issues like heart problems and cataracts.
Genetics: Caused by mutations in the DMPK gene (Type 1) or CNBP gene (Type 2).

4. Facioscapulohumeral Muscular Dystrophy (FSHD):

Age of Onset: Usually starts in adolescence or early adulthood.
Symptoms: Weakness primarily in the face, shoulders, and upper arms.
Genetics: Caused by changes in the DUX4 gene, leading to inappropriate expression of this gene.

5. Limb-Girdle Muscular Dystrophy (LGMD):

Age of Onset: Can begin in childhood or adulthood.
Symptoms: Weakness in the shoulder and hip girdle muscles, which can progress to other muscles.
Genetics: Various types are caused by different genetic mutations.

6. Congenital Muscular Dystrophy (CMD):

Age of Onset: Present at birth or early infancy.
Symptoms: Muscle weakness from birth or early life, often accompanied by joint deformities and neurological problems.
Genetics: Caused by various genetic mutations affecting muscle function and development.

Symptoms:

Progressive Muscle Weakness: Weakness starts in specific muscle groups and progresses over time.
Muscle Wasting: Loss of muscle mass and strength.
Difficulty Walking: Trouble with motor skills and walking due to muscle weakness.
Contractures: Joint deformities caused by muscle imbalance.
Respiratory Issues: Weakening of the respiratory muscles can lead to breathing difficulties.
Cardiac Issues: Some types of muscular dystrophy affect heart muscle function.

Causes:

Muscular dystrophy is caused by genetic mutations that affect proteins responsible for maintaining muscle integrity. These mutations can be inherited in different ways, such as X-linked recessive, autosomal dominant, or autosomal recessive.

There is no cure for muscular dystrophy, but treatments can help manage symptoms and improve quality of life.

How physiotherapy can help?

Exercise Programs: Tailored to maintain mobility and strength.
Stretching and Strengthening Exercises: To manage muscle stiffness and weakness.
Adaptive Devices: To assist with daily activities.
Skills Training: To enhance independence.

Aug 08,2024