John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human clinical trials. Why does it take so long?

A research team has demonstrated that a cell-penetrating molecule called TAT transported human frataxin protein to its proper place in cells, where it normalized growth, improved heart structure and function, and increased survival rate and life span in a mouse model of severe Friedreich’s ataxia (FA).

A large-scale study, supported in part by MDA, seeks to determine the natural history (general disease course) of four subtypes of Charcot-Marie-Tooth disease (CMT), with particular emphasis on correlations between genetic mutations and symptoms. The four subtypes are CMT1B, CMT2A, CMT4A and CMT4C.

Researchers supported in part by MDA are seeking people with Charcot-Marie-Tooth disease (CMT) to participate in a study to identify genetic modifiers of the type 1A form of CMT (CMT1A) and determine previously unknown genetic causes of CMT.

When talking with Leanne Beers of Missoula, Mont., you can’t help thinking that this is one upbeat, optimistic woman.

“Even though you have muscular dystrophy, or any limitation for that matter,” she says, “it doesn’t mean you can’t accomplish the goals you want. You just may have to go about it differently. There’s no reason you can’t be happy and thrive on life.”

Sharing a life together in Spokane, Wash., Bill Beall Jr. and Gail Ableman — who each use power wheelchairs due to Friedreich’s ataxia (FA)— spend much of their time working out to maintain their independence.

MDA’s Quest magazine and a love of exercise brought them together — and their love of each other makes possible their continued independence.

Stem cells have been much in the news lately, including for neuromuscular diseases.

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.

The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

Edison drugs target FA, mitochondrial diseases

When a medical emergency strikes — and the patient is a person with a neuromuscular disease— it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.