Muscular Dystrophies

Building New Muscle Requires Controlled Damage

Remodeling a building usually requires some degree of dismantling before new construction can begin. That principle, it now seems, also may apply to the remodeling of the body's cells. 

Scientists at Ottawa Hospital Research Institute and the University of Ottawa have found recently that it applies to muscle cells, which can only develop from a stemlike state into mature muscle fibers after a certain amount of their DNA has been disassembled and then rebuilt. 

About the new findings 

Causative Gene Mutations ID'd for Two Muscle Diseases

An MDA-supported, multinational team of researchers from Canada and Europe has identified specific mutations in the anoctamin 5 (ANO5) gene on chromosome 11 that can cause type 2L limb-girdle muscular dystrophy (LGMD2L) and type 3 Miyoshi myopathy.

Cardiomyopathy in Becker MD

This story was updated Oct. 6, 2010.

In many forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), weakness and degeneration of the cardiac muscle can be a major part of the disease, and one that frequently shortens life.

CMD, Form of MM Qualify for Speedy Decision on S.S. Benefits

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.

New Muscle Stem Cell Found in Mice

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.

MMD1: Lost Proteins’ Roles Revealed?

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

Parent Survey in DMD, BMD, CMD and SMA

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. 

DMD, BMD: Trial of Ataluren in Nonwalkers

Update (March 3, 2010): An update to the article Ataluren Results Disappointing was posted.

OPMD: Toxic Clumps Not the Only Cause?

 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

MDA Awards $21 Million for Research

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.

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