A study to determine the usual disease course of myotubular myopathy has sites in North America and France

posted on March 18, 2014 - 11:41am
Update (May 20, 2014): This story has been updated to reflect additional information received May 20, 2014, from Michelle Nelken at Valerion Therapeutics, including the joint sponsorship of this study by Valerion and Genethon. ====================================================================================

As the search continues for SMA treatments and a cure, MDA is working to help those living with the disease today

posted on August 29, 2013 - 10:37am
MDA is working to improve life span and quality of life for people with spinal muscular atrophy (SMA). Those efforts include the creation of the MDA clinical neuromuscular disease registry, promotion of newborn screening for SMA and publication of a family friendly version of SMA standard of care guidelines. MDA clinical neuromuscular disease registry

People with FA, or other disorders classified as ataxias, are encouraged to enroll in the CoRDS ataxia patient registry, which aims to advance ataxia research

posted on July 12, 2013 - 11:05am
The Coordination of Rare Diseases at Sanford (CoRDS) national rare disease registry is now hosting an ataxia patient registry for people with Friedreich's ataxia (FA) or other disorders classified as ataxias (conditions that cause problems with balance or coordination).

Disease registries are seeking participants with CMD, FSHD, LGMD, MMD and Pompe disease

posted on June 7, 2013 - 11:05am
FSHD, MMD: Registry remains open The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.
posted on October 1, 2011 - 10:09am
QUEST Vol. 18, No. 4
Featured in this update: Families, experts meet at BMD ConferenceThree trials study blood-vessel-dilating drugs in BMD, DMDResults of daily, weekly prednisone treatment about the same in DMD