Quest Magazine

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.

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.

Gene Links Rare CMT, SMA Forms

Three teams of researchers in the United States and Europe have identified specific mutations in a chromosome-12 gene for the TRPV4 protein that tie together the origins of type 2C Charcot-Marie-Tooth disease (CMT2C) and two rare forms of spinal muscular atrophy (SMA).

Broadway Ticket Deals

Planning a trip to the Big Apple? Theater lovers who use wheelchairs, or who have trouble with steps, use a service dog or require aisle seating for medical reasons can get a hefty discount on orchestra seats to certain productions through the Theatre Development Fund, an organization dedicated to increasing access to theater for all audiences.

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.

New Grant For LGMD2D Gene Therapy

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.

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