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Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)
In 1990, the genetic defect that underlies facioscapulohumeral muscular dystrophy (FSHD) was located on chromosome 4. Many investigators assumed that one gene would be found that, when flawed, would lead to the development of the symptoms recognized clinically as FSHD. This turned out not to be the case.
Medical treatments for FSHD are relatively few, and none are specific to the disease. There’s no treatment that can halt or reverse the effects of FSHD, but there are treatments and devices to help alleviate many of the symptoms.
Anti-inflammatory drugs known as nonsteroidal anti-inflammatories, or NSAIDs, are often prescribed to improve comfort and mobility. These are the same drugs taken by many people with arthritis and other inflammatory conditions.
In facioscapulohumeral muscular dystrophy (FSHD), a small section of the DNA on chromosome 4 that’s shorter than usual is inherited in an autosomal dominant pattern, meaning it only takes one such mutation (from one parent) to cause the disorder. This altered piece of DNA also can occur spontaneously in a child as he or she develops in the womb.
Today, the most reliable way to diagnose facioscapulohumeral muscular dystrophy (FSHD) is with a test for a tiny missing section of DNA on chromosome 4. This test, which is performed on blood cells, is considered highly accurate for FSHD, even though no specific gene has been identified as being associated with the disorder.
The age of onset, progression and severity of FSHD vary a great deal.
Usually, symptoms develop during the teen years, with most people noticing some problems by age 20, although weakness in some muscles can begin as early as infancy and as late as the 50s. In some people, the disease can be so mild that no symptoms are noticed. In these cases, the disease may only be diagnosed after another, more affected member of the family comes to medical attention.
MDA leads the search for treatments and therapies for facioscapulohumeral muscular dystrophy (FSHD). The Association also provides comprehensive supports and expert clinical care for those living with FSHD.
In this section, you’ll find up-to-date information about facioscapulohumeral muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.