Muscular Dystrophy

According to the World Health Organization (WHO), muscular dystrophy is defined as:

“A group of genetic disorders characterized by progressive muscle degeneration and weakness. These disorders are caused by mutations in genes that are responsible for the production of proteins that are necessary for muscle function.”

Types

   There are several types of muscular dystrophy, including:

• Duchenne Muscular Dystrophy (DMD): The most common form, primarily affecting the male child at the age of below 5 years and caused by mutations in the dystrophin gene. Gower’s sign is seen at the of 6years.
• Becker Muscular Dystrophy (BMD): BMD is characterized by a later onset of symtoms and the slower rate of progression then that of DMD. The onset of disease is 12 years and 90% are before the age of 20 years.
• Myotonic Dystrophy: The most common adult form, characterized by prolonged muscle contractions and weakness.
• Facioscapulohumeral Muscular Dystrophy (FSHD): Affects facial, shoulder, and upper arm muscles, with onset typically in teenage age.

Causes

It is primarily caused by genetic mutations that affect the proteins needed for muscle health.

 Genetic Mutations

1. Dystrophin Gene Mutation:
   1. In Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD), mutations occur in the dystrophin gene, which is essential for maintaining muscle cell structure.
2. Other Genes:
   1. Different types of muscular dystrophy are linked to mutations in various genes:
      1. Myotonic Dystrophy: Caused by repeats of specific DNA sequences in the DMPK gene.Muscular Dystrophy (FSHD): Linked to changes in the DUX4 gene.

Inheritance Patterns

• X-Linked Recessive: DMD and BMD are inherited this way, primarily affecting boys, while females may be carriers.
• Autosomal Dominant: Conditions like myotonic dystrophy can be passed down if one parent carries the mutation.
• Autosomal Recessive: Some types of limb-girdle muscular dystrophy can be inherited when both parents carry a mutated gene.

Symtoms of muscular dystrophy

• Progressive muscular weakness particularly in the limbs and trunk.
• Difficulty in activities like running, jumping, or climbing stairs.
• Increased the risk of falling due to muscle weakness.
• Loss of muscle bulk over time.
• A waddling type of gait patterns developed.
• At the end stage the respiratory muscles become paralyzed.

Physiotherapeutic management of muscular dystrophy

Under Multidisciplinary management physiotherapy is the most valuable factor to preven the spinal deformities, predominantly lordosis and then scoliosis. Even ergonomic care that must be invaluable.

Goals

• Focus on preserving muscle function as long as possible.
• Improve walking and overall movement to reduce the risk of falls.
• Prevent contractures and maintain joint range of motion.
• Help maintain lung capacity and efficiency.
• Provide knowledge and strategies for self-management.

Treatment

   ·  Strength Training: Gentle, low-resistance exercises to strengthen unaffected muscles and maintain overall function. High-resistance exercises should generally be avoided to prevent muscle damage.

  ·  Stretching Exercises: Regular stretching can help maintain flexibility and prevent contractures, focusing on muscle groups that are prone to tightness.

·  Aerobic Conditioning: Low-impact aerobic exercises (e.g., swimming, cycling) can improve cardiovascular fitness and overall endurance.

·  Balance and Coordination Training: Activities to enhance balance and coordination, helping to prevent falls.

·  Assistive Devices: Evaluation and recommendation of assistive devices (like braces, walkers, or wheelchairs) to support mobility and independence.

·  Posture and Gait Training: Techniques to improve posture and walking patterns, which can help in reducing strain on muscles and joints.

·  Breathing Exercises: Techniques to strengthen respiratory muscles and improve lung function, especially in advanced stages of the disease.