Drug testing for Duchenne MD, Leigh syndrome and Pompe disease moves forward; and two MDA-supported mouse studies suggest leads for myasthenia gravis and periodic paralysis
Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.
Disease registry seeks input from people with congenital muscular dystrophies, congenital myasthenic syndromes or other congenital muscle disorders, including those with no clear diagnosis
An international patient registry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.
Mice with a disorder mimicking myotubular myopathy showed improvements in muscle strength and function in response to a myotubularin-based enzyme replacement therapy
Update (Jan. 10, 2013): This story has been updated with additional information about MDA funding of this and related research projects.
In the past, children with rapidly progressive neuromuscular scoliosis often underwent growth-stopping spinal fusion. Today, there are more options.
Payton Mueller's parents knew something was amiss by the time he was 9 months old.
MDA-supported scientists have developed a research mouse with a calcium channel mutation and a disorder that mimics human hypokalemic periodic paralysis
Scientists supported in part by MDA have developed a second type of research mouse with a disorder mimicking hypokalemic periodic paralysis, a genetic disorder in which recurrent attacks of weakness or paralysis occur in association with low potassium levels in the bloodstream. Like the majority of humans with this disorder, the mice have a mutation in the gene for a muscle-fiber calcium channel...
A competition to identify and explain genetic mutations using genome sequencing has solved an 11-year mystery for the family of a boy with centronuclear myopathy
Update (Dec. 4, 2012): This story was updated to reflect that the 13 previously identified genes that were tested as potentially associated with Adam Foye's disease were genes for various disorders that cause muscle weakness, not just centronuclear myopathy. Including titin, there are five genes now known to be associated with CNM.
Researchers are studying the 'natural history' of centronuclear/myotubular myopathies, central core disease and multiminicore disease, with an eye to future trials
Investigators at the University of Michigan in Ann Arbor are conducting a study of the progression of centronuclear myopathies (CNMs), including the type known as myotubular myopathy (MTM); central core disease (CCD) and multiminicore disease. The study is intended to: