Peripheral Neuropathies

MDA Genetic Counseling Webinar Answers Key Questions

Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing.

MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.

MDA Commits $12 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Feb. 1.

Frataxin 'Fusion' Protein Rescues FA Mice

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).

Researchers Studying CMT1B, CMT2A, CMT4A, CMT4C, Others

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.

CMT Genetics Study Seeks Participants

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.

Leanne Beers: Mom with DS 'Thrives on Life'

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.”

Induced Stem Cells Require Cautious Approach

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

MDA Awards $13.7 Million in Research Grants

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.

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Diagnosis

A combination of lower leg weakness and foot deformities is a red flag for Charcot-Marie-Tooth disease (CMT) but isn’t sufficient for diagnosis. When a patient has those symptoms, a neurologist will usually start with a physical exam to look for further signs of distal weakness and sensory loss.

As a test for leg weakness, a neurologist might ask patients to walk on their heels or move part of their leg against an opposing force.

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