Muscular Dystrophy Education & Treatment
Muscular Dystrophy refers to a large number of inherited muscle diseases which cause muscle weakness. Common forms of muscular dystrophy include Duchenne’s Muscular Dystrophy, Becker’s Muscular Dystrophy, Limb Girdle Muscular Dystrophy, and Fascioscapular Muscular Dystrophy. More and more of these disease are discovered each year. In addition our ability to specifically diagnose the exact type of muscular dystrophy has improved. Usually a comprehensive physical and neurologic exam and a EMG/Nerve Conduction Study will be performed first in order to try and narrow down the type of Muscular Dystrophy. Then these disorders can be specifically diagnosed through a muscle biopsy and genetic testing.
Muscular Dystrophy refers to a large number of inherited muscle diseases which cause muscle weakness. The term dystrophy refers to the fact that these diseases can begin at birth or later in life but cause progressive weakness. This weakness can involve the face, arms or legs. In some cases children appeared weak from a very early age but in other cases a patient may be normal until their adult years and then start to show symptoms of muscle weakness. There are usually no associated sensory symptoms, meaning numbness tingling, and pain are relatively uncommon.
There are a large number of Muscular Dystrophies. The list below is not comprehensive but provides a brief description of the more common forms of muscular dystrophy.
Each form of Muscular dystrophy has a different cause. They are all due to some form of inherited disorder. Frequently the defect in the muscle is one of a series of proteins which function on the surface of the muscle fiber, known as the dystrophin associated glycoprotein compex. These diseases can be passed on in an autosomal dominant fashion, which means an affected parent has a 50% chance of passing it on to each child. There are also autosomal recessive forms in which neither parent is affected but can pass it on to a child who has the disease. There are also X-linked forms which means only males can be affected but the females can be carriers for the disease and pass it on to male children.
The treatments for Muscular Dystrophy takes on two main facets. The first goal is to allow patients to achieve as independent a life as possible. As the weakness progresses this usually requires the use of ancillary equipment such as canes, walkers, wheelchairs etc. We believe that the coordination of these efforts is best accomplished through a multidisciplinary approach. We have therefore created a clinic for people with muscular dystrophy which brings together a speech therapist, an occupational therapist, a nurse, and respiratory therapist when needed. In this way we can determine all of the patients needs in one clinic visit and provide them as rapidly as possible.
In addition several forms of MD have other associated problems such as heart disease, diabetes, cataracts etc. By seeing one of our trained neurologists we will have a better idea which other medical problems may arise as a result of the exact form of muscular dystrophy present.
Unfortunately there are no known cures for any form of muscular dystrophy. As these are genetic diseases they will most likely require some form of gene therapy for a cure. There is a lot of research into different ways to accomplish this genetic therapy. It is hopeful within the next decade that some forms of MD will have a cure.
Muscular Dystrophy Clinical Trials:
Related publications by our physicians: