Description: 

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:

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Going to the Emergency Room: Tips for People with Neuromuscular Diseases

When a medical emergency strikes — and the patient is a person with a neuromuscular disease— it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Five Strategies for Treating Neuromuscular Disease

Antisense oligonucleotides block flawed genetic instructions

Antisense oligonucleotides — also called antisense, oligos, or simply AONs— are pieces of genetic code that keep other genetic code from being processed. Designed to pair up with a particular sequence of DNA or RNA, AONs can change, block or destroy targeted genetic instructions in a variety of ways.

Overview

What are metabolic diseases of muscle?

Muscles and organs affected in metabolic diseases

Researchers Exploring Disability Perceptions

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.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

Research Briefs: BMD, DMD, EDMD, FA, LGMD, OPMD, Pompe disease, SMA

Idebenone may help maintain respiratory function in DMD

Santhera Pharmaceuticals announced May 9, 2011, that its drug Catena (generic name idebenone) appears to slow the decline in respiratory function associated with aging in people with Duchenne muscular dystrophy (DMD). Idebenone may improve energy production in muscle and nerve cells.

Research Briefs: CMT, IBM, LGMD, MTM/CNM, Pompe disease

Charcot-Marie-Tooth disease

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.

Research Briefs: CMS, DMD, LGMD, Pompe, Stem Cells

Congenital myasthenic syndromes

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).

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

Charcot-Marie-Tooth disease

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