Boys with Duchenne muscular dystrophy (DMD) participating in a phase 2b extension trial of the experimental exon-skipping drug eteplirsen showed continued stabilization of walking distance at 120 weeks. Sarepta Therapeutics, developer of eteplirsen, announced the findings in a Jan. 15, 2014, press release.
A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.
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.)
Recent MDA-supported research in distal muscular dystrophy (DD) has concentrated on understanding how the gene defects that cause this diverse group of diseases affect the proteins made from these genes, and in turn how these protein abnormalities affect muscle tissue.
When the protein and tissue abnormalities are understood, it is hoped, potential avenues of treatment will reveal themselves.
Problems and solutions in distal muscular dystrophy (DD)
Forearm and hand weakness
Your MDA clinic can refer you to an occupational therapist who can help you get the most out of your hand and forearm muscles in performing day-to-day activities. Often, the therapist can recommend devices that may improve grip strength or help support your arms for using a keyboard or eating.
All the forms of muscular dystrophy are inherited — that is, they’re caused by mutations (changes) in a person’s genes. Our genes are made of DNA and reside in our chromosomes. Each gene contains the “recipe” for a different protein and its variations, and these proteins are necessary for our bodies to function correctly.
What tests are used to diagnose distal muscular dystrophy (DD)?
In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Much can be learned from these, including the pattern of weakness. The history and physical go a long way toward making the diagnosis, even before any complicated diagnostic tests are done.
What happens to someone with distal muscular dystrophy (DD)?
Typically, the first symptom of distal muscular dystrophy (DD) is weakness in the distal muscles — those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs. With time, other muscle groups may become affected as well.
The distal dystrophies, or DDs, are caused by many different genetic defects, not all of which are yet known. Also, some of the DDs have been given different names based on various symptoms but may actually be caused by defects in the same gene.
Your own form of DD may or may not fit into one of these categories. Many of these diseases can vary from one person to the next, and in some cases, researchers are still in the process of sorting out what symptoms are linked to particular genetic defects.