MDA leads the search for treatments and therapies for metabolic diseases of muscle. The Association also provides comprehensive supports and expert clinical care for those living with metabolic diseases of muscle.
In this section, you’ll find up-to-date information about metabolic diseases of muscle, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.
Here you will find information about 10 of the most common metabolic diseases of muscle:
Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.
A two-year, large-scale trial of ascorbic acid (vitamin C) in people with type 1A Charcot-Marie-Tooth disease (CMT1A) conducted in Italy and the United Kingdom has found the substance had no significant effect on the disease compared with a placebo. Ascorbic acid was taken orally at 1.5 grams per day in this study. An ongoing U.S.-based trial (now closed to recruitment) is testing ascorbic acid in CMT1A at a dosage of 4 grams per day for two years.
A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).
A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.