Muscular Dystrophies

Signs and Symptoms

The pattern of muscle loss in BMD usually begins with the hips and pelvic area, the thighs and the shoulders. To compensate for weakening muscles, the person may walk with a waddling gait, walk on his toes or stick out the abdomen.

The rate of muscle degeneration varies a great deal from one person to another. Some men require wheelchairs by their 30s or later, while some manage for many years with minor aids, such as canes.

Research Briefs: Stem Cells

Stem cells are a hot topic these days in medicine, science and law, although the term has multiple meanings and it's easy to get confused.

In short, stem cells are cells at an early stage of development from which specialized cells, such as muscle or nerve cells, can develop (in other words, from which these specialized cells "stem").

Different kinds of stem cells are referred to as:

Research Briefs: The DMD/BMD-Affected Heart

In both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), deterioration of the heart muscle, a condition known as cardiomyopathy, is a major cause of disability and death.

Researchers Exploring Disability Perceptions

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

Research Briefs: BMD, DMD, EDMD, FA, LGMD, OPMD, Pompe disease, SMA

Idebenone may help maintain respiratory function in DMD

Santhera Pharmaceuticals announced May 9, 2011, that its drug Catena (generic name idebenone) appears to slow the decline in respiratory function associated with aging in people with Duchenne muscular dystrophy (DMD). Idebenone may improve energy production in muscle and nerve cells.

AAN Research Briefs on DM, DMD, LGMD, MG, MMD, SMA

Below are brief reports and links to more information about neuromuscular disease research presented at the 63rd annual meeting of the American Academy of Neurology (AAN), held in Honolulu April 9-16, 2011.

MDA Surveying Families about ‘Cost of Illness’

Most people affected by neuromuscular disease know all too well that their condition is costly. MDA wants to find out just how costly — and then translate those figures into terms that will speak to policy makers.

Scholarships, Grants Available to People with Disabilities

(Update 9/14/11: The 2011 scholarship winners have been selected. To view a list of winners visit www.deshae.org/cmms/awards/2011/scholars.pdf. Applications for quality of life grants continue to be accepted and are awarded on an ongoing basis.)

Research Briefs: CMT, IBM, LGMD, MTM/CNM, Pompe disease

Charcot-Marie-Tooth disease

A two-year, large-scale trial of ascorbic acid (vitamin C) in people with type 1A Charcot-Marie-Tooth disease (CMT1A) conducted in Italy and the United Kingdom has found the substance had no significant effect on the disease compared with a placebo. Ascorbic acid was taken orally at 1.5 grams per day in this study. An ongoing U.S.-based trial (now closed to recruitment) is testing ascorbic acid in CMT1A at a dosage of 4 grams per day for two years.

Research Briefs: DMD Exon Skipping

sClinical trials that use compounds called antisense oligonucleotides to cause skipping of exon 51 of the dystrophin gene in individuals with Duchenne muscular dystrophy (DMD) are moving forward in the United States and elsewhere.

Exon skipping for DMD is a strategy that coaxes muscle fibers to ignore, or "skip," the genetic instructions for certain parts of the dystrophin gene so that functional dystrophin protein can be made despite the presence of a genetic mutation.

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