Muscular Dystrophy

What is muscular dystrophy? What causes muscular dystrophy?

The term muscular dystrophy refers to inherited muscle disorders that affect the musculoskeletal system and blocks movement. Different types of muscular dystrophies include duchenne muscular dystrophy, myotonic dystrophy, becker's muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophies, emery-Dreifuss muscular dystrophy, oculopharyngeal dystrophy, distal muscular dystrophy and mitochondrial myopathies. The distinction between the above mentioned muscular dystrophies is based on age, pattern and progression of muscle weakness, involvement of other tissues apart from muscle and the manner of inheritance.

Genetic mutation is the cause of muscular dystrophy and thus it is often passed on to the next generation. The genes that regulate healthy muscle structure and function produce a protein called dystrophin, to support its function. Mutations in these genes result in either insufficient production of dystrophin or production of inactive dystrophin.

What are the symptoms of muscular dystrophy?

The symptoms vary depending on the type of muscular dystrophy. The common symptoms include uncoordinated movements with frequent falls, stiffness in joints and muscle weakness.

How is muscular dystrophy diagnosed?

Those who have muscular dystrophy would become weaker and weaker over time. Muscular dystrophy is suspected if you have an abnormal level of the chemical, creatine kinase (CPK) in blood. Further tests such as electromyogram (EMG) and muscular biopsy may also be recommended to confirm muscular dystrophy since there are other muscle diseases that cause an increase in creatine kinase (CPK) in blood.

How is muscular dystrophy treated?

There isn’t any cure for muscular dystrophy. Corticosteroid medications may be prescribed to treat muscle weakness. Physical therapy will also help tighten the muscles. Breathing assistance is recommended for people with severe muscular dystrophy affecting the respiratory muscles. Life expectancy is usually shortened in such patients. Treatment for muscular dystrophy costs around $18,930.

Can muscular dystrophy be prevented?

Since muscular dystrophy is an inherited disorder, genetic counseling is often recommended to avoid the spread of this disease to the next generation.  Go for genetic counseling if you or your partner has a family history of muscular dystrophy or if you are a carrier of the mutated genes that cause muscular dystrophy. There is a high risk of pneumonia in those with muscular dystrophy. So vaccinate against pneumonia. Take regular influenza shots and be protected against influenza.