ABOUT THE DISEASE

Muscular dystrophy (MD) is a group of inherited (genetic) diseases characterized by progressive damage and weakness of facial, limb, breathing, and heart muscles. This results due to the lack of a key protein that is needed to maintain the integrity and proper function of the muscle. As the muscle tissue is damaged, the muscle bulk is reduced.

The major forms of MD are:

- Duchenne.
- Myotonic.
- Becker.
- Limb-girdle.
- Congenital.
- Oculopharyngeal.
- Distal.
- Emery-Dreifuss.
- Facioscapulohumeral.

Duchenne is the most common form of MD in children. Myotonic MD is the most common form in adults.

CAUSES

More than 30 genes have been identified to cause different types of muscular dystrophies.
The inheritance of genes could be:
- X-linked recessive (Duchenne/Becker and Emery-Dreifuss),
- Autosomal recessive (Limb-girdle type 2 MD and distal myopathy)
- Autosomal dominant (Myotonic , facioscapulohumeral, and oculopharyngeal)

SYMPTOMS

Symptoms vary with the different types of muscular dystrophy and the muscles affected.
Symptoms include:

• • Intellectual disability ( in some types)
• • Muscle weakness that slowly gets worse
• ‣ Delayed development of muscle motor skills
• ‣ Difficulty using one or more muscle groups
• ‣ Drooling
• ‣ Ptosis - Eyelid drooping
• ‣ Problems in walking
• ‣ Frequent falls
• ‣ Loss of strength in a muscle or group of muscles as an adult
• ‣ Loss in muscle size

DIAGNOSIS

Diagnosis is based on a combination of the following tests:

- Blood tests: To look for an enzyme called creatine kinase (CK). This enzyme rises in the blood due to muscle damage or deterioration and may reveal some forms of MD before any physical symptoms appear.
- Muscle biopsy: If MD is present, changes in the structure of muscle cells and other characteristics of the different forms of MD can be detected. The sample can also be stained to detect the presence or absence of particular proteins.
- Electromyogram (EMG): To rule out the weakness in muscles due to nerve damage
- Genetic tests: Many muscular dystrophies can be definitively diagnosed by testing for the mutated genes. The gene tests can spare muscle biopsies in these MD.

TREATMENT METHODS

There is no cure for this disease and the treatment is purely symptomatic to manage and relieve the symptoms:

Treatments that address symptoms may include:

- Physical therapy – like regular stretching, to prevent contractures that may occur around joints causing abnormal and painful positioning of the joints.

- Orthoses - are orthopedic appliances used for support and to improve mobility.

- Corrective orthopedic surgery to improve the quality of life.

- Pacemaker implant to address the cardiac problems that occur with Emery-Dreifuss MD and Myotonic MD.

- Medications can be given to overcome the inability of muscles to relax after a strong contraction.

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