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.
