Charcot-Marie-Tooth Disease (CMT)

Research Briefs: CMT, CMS, DMD/BMD, FA, Pompe disease, SBMA

MDA Awards $13.5 Million in Research Grants

The Muscular Dystrophy Association has awarded 44 grants totaling $13.5 million to support research efforts aimed at advancing understanding of disease processes and uncovering 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 reviewed by MDA’s Scientific and Medical Advisory Committees, and approved by MDA’s Board of Directors at its December meeting.

Young Author with CMT Pens Tale of High-Flying Goose

Ruthie B. Goose is by no means your average goose.

Ruthie has very high expectations of herself — specifically to fly higher than any other bird has flown before.

Ruthie’s resolution and her efforts to fly to 37,901 feet are the subject of a book written by a 10-year-old girl and her father, both of whom have Charcot-Marie-Tooth disease (CMT).

MDA Awards More Than $14 Million in Research Grants

MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases. 

MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the disease. The effective start date for all grants was July 1, 2010.

New Tools for Trials in Children with CMT

Two scales that can be used to assess disease progression and any response that may occur to a treatment have been developed for children with Charcot-Marie-Tooth (CMT) disease.

One, called the CMT Pediatric Scale, measures physical functioning. The second, called the Pediatric CMT Quality of Life Instrument, measures how the disease affects children's life experience. The two scales eventually will be merged, the investigators say.

Curcumin Helps Mice With CMT-Like Disease

Mice with a genetic mutation in the myelin protein zero (MPZ) gene, which develop a disease resembling human type 1B Charcot-Marie-Tooth disease (CMT1B), benefited from treatment with curcumin and curcumin derivatives, researchers announced April 15, at the 2010 meeting of the American Academy of Neurology (AAN), held in Toronto.

NT3 Gene Therapy for CMT1A Benefits Mice

Mice with a disorder resembling type 1A Charcot-Marie-Tooth (CMT1A) disease that received a single intramuscular injection of genes for the protein neurotrophin 3 (NT3) showed improvements in grip strength, ability to stay on a rotating rod, and strength of nerve signals, investigators reported April 15, at the 2010 meeting of the American Academy of Neurology, held in Toronto.

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).

Vote Abbey for Gap Kid!

Abbey Umali needs your vote.

The vivacious 10-year-old, who is MDA’s National Goodwill Ambassador, is competing for the chance to add another title to her resume: Gap Kid.

Popular international retailer Gap has launched a nationwide search for the next faces for GapKids, its kids’ clothing line. Abbey, who has a form of Charcot-Marie-Tooth disease, is in the running and could use your help to win "fan favorite."

Skydiver with CMT

“You take one look out that door … and it’s a long way down.”

In fact it was 14,000 feet down, give or take a foot or two, for Mike Crowe and members of the U.S. Army’s elite Golden Knights precision parachuting team -– a record high for the team in tandem jumping.

Crowe, 59, of Louisville, Ky., dropped from the plane and into the sky linked to Sgt. First Class Mike Elliott, otherwise known as the tandem master.