Charcot-Marie-Tooth Disease (CMT)

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.

CMT and Vitamin C

A recent trial has shown inconclusive results from various doses of vitamin C (ascorbic acid) in patients with the peripheral nerve disease type 1A Charcot-Marie-Tooth disease (CMT1A), and the jury remains out on this form of treatment, says Michael Shy, an MDA grantee at Wayne State University in Detroit.

Jury Still Out on Value of Vitamin C in CMT1A

A recent trial has shown inconclusive results from various doses of vitamin C (ascorbic acid) in patients with the peripheral nerve disease type 1A Charcot-Marie-Tooth disease (CMT1A), and the jury remains out on this form of treatment, says Michael Shy, an MDA grantee at Wayne State University in Detroit.

Kids' Cool Chair Creation

When a group of Wethersfield (Conn.) High School students was brainstorming ideas for a science project, they looked no further than team member Griffin Latulippe for an idea that vaulted them into the international spotlight.

CMT Research: Gene Benefits Mice

Zarife Sahenk at Nationwide Children's Hospital and Ohio State University in Columbus, and colleagues, found mice with a disease resembling type 1A Charcot-Marie-Tooth disease (CMT) benefited from a transfer of genes for the neurotrophin 3 protein. CMT1A is caused by a duplication of the PMP22 gene.

Jerry Mendell, who has received many MDA research grants and co-directs the MDA clinic at Nationwide Children's, was part of the study team, as was Brian Kaspar, who has MDA support at Nationwide.

Tom Mumper: Wood Turner with CMT

Tom Mumper
Tom Mumper, 80, revels in shaping wood into “functional art

Twenty years and 4,600 artfully crafted pieces later, Tom Mumper has no plans to slow down with his unique woodturning avocation.

CMT Research Network

In January, MDA began funding development of the North American CMT Network to provide an infrastructure for clinical research in Charcot-Marie-Tooth disease (CMT) and aid researchers in locating potential participants for clinical studies.

An early goal of the network is to establish scoring systems for functional evaluations in children with CMT.

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