Muscular Dystrophies

The Social Security Administration (SSA) announced today that 38 more diseases have been added to its Compassionate Allowances list, including four forms of congenital muscular dystrophy (CMD) and Leigh syndrome, a form of mitochondrial myopathy.

MDA-supported scientists in France have identified a previously unknown type of muscle stem cell located in the spaces between muscle fibers in mice. They say the new cells, dubbed "PICs," may play at least as important a role in muscle regeneration and repair as satellite cells, which have been recognized as stemlike cells in muscle since the 1960s. As such, they could have implications for treatment of muscular dystrophies.

Scientists at several U.S. institutions have added yet another piece of the puzzle of type 1 myotonic dystrophy (MMD1, also called DM1).

There’s often quite a gap between the time when parents first have worries about their infant or child and when they finally learn the child has a neuromuscular disease.

The National Task Force for the Early Identification of Childhood Neuromuscular Disorders is conducting a survey to learn more about parents' first concerns about their children and how they described those concerns to their health care providers, as part of an effort to reduce the time it takes for families to get an accurate diagnosis of neuromuscular disorders. 

 New findings strongly suggest that oculopharyngeal muscular dystrophy (OPMD) can't be explained solely on the basis of the formation of potentially toxic protein clumps in muscle cells. The loss of function of a protein known as PABPN1 appears to be a likely factor in this disease as well.

The findings may lead to new therapeutic strategies.

About the new findings

In December 2009, MDA awarded $21 million in new research grants for neuromuscular disease research.

MDA's Scientific Advisory Committee (SAC) and Medical Advisory Committee (MAC) meet each fall and spring to review applications for research grants. Applications are scored on the basis of the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the diseases in MDA's program. MDA's Board of Directors then reviews the recommendations of the MAC and SAC.

Development of delivery of a therapeutic gene via the bloodstream to the thigh muscles in people with type 2D limb-girdle muscular dystrophy (LGMD2D) is proceeding on schedule, thanks in part to a new $458,814 grant from MDA to neurologist Jerry Mendell at Nationwide Children's Hospital in Columbus, Ohio.

MDA's Board of Directors approved the new funding, via the Association's translational research/MDA Venture Philanthropy program, on Dec. 4, 2009.

Interim results from a human clinical trial of the exon-skipping compound AVI4658 in boys with Duchenne muscular dystrophy (DMD) show that when the compound is delivered to the whole body via the bloodstream — rather than simply injected into a foot muscle as in a previous trial — it appears safe and leads to production of the missing muscle protein dystrophin.

"Pa, I’m gettin' darn tired of goin’ down there and comin’ back with second place."

Robert Powell, 14, ordinarily is a young man of very few words. But when the subject is horse-pulling contests, it garners the full attention of this lad from Pleasuresville, Ky.