Quest Magazine

SMA Research: Strengthening the Junctions

MDA-supported researchers at the University of Ottawa and Ottawa Hospital Research Institute (OHRI) have identified a biological pathway that may prove useful in developing treatments for spinal muscular atrophy (SMA)

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.

DMD, BMD: Tests Start of Experimental Utrophin Drug

 A small, orally administered molecule designed to increase production of the muscle protein utrophin, is being tested in healthy volunteers, according to its developer, BioMarin Pharmaceutical of Novato, Calif.

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).

Potassium Channel Mutations Underlie TPP

The rare condition thyrotoxic hypokalemic periodic paralysis, or TPP, causes people with normal muscle strength to experience episodes of paralysis and weakness. Until recently, TPP was known to be associated with attacks of high thyroid hormone secretion (thyrotoxicosis), but new information shows that in some cases the condition also has a genetic component -- mutations in a newly identified potassium channel that helps control the flow of potassium ions into and out of muscle fibers.

ALS TDI: Full Speed Ahead

Significant progress on multiple fronts was reported by ALS TDI (the Amyotrophic Lateral Sclerosis Therapy Development Institute) in its first Webcast of 2010, hosted on Jan. 14.

CBS Special Spotlights ALS

On Jan. 28, a CBS special will help raise awareness of ALS (amyotrophic lateral sclerosis or Lou Gehrig’s disease) by describing how a Colorado man is making the most of his life while battling the deadly disease.

Titled “Ordinary People, Extraordinary Challenges,” the special is part of CBS’ new “Live for the Moment” reality series co-produced by Jeff Probst, host of the network’s popular “Survivor” series.

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