Phosphoglycerate Kinase Deficiency

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.

A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

Experimental Drug Being Tested in Mitochondrial and Metabolic Disorders, FA

Research Briefs: Metabolic Muscle Diseases

New research mouse mimics McArdle disease

Types of Metabolic Diseases of Muscle

This section provides information about 10 metabolic diseases of muscle. Each one gets its name from the substance that’s lacking.

For more information about these types, please click on the individual disease name.

Metabolic Diseases of Muscle

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

Overview

What are metabolic diseases of muscle?

Muscles and organs affected in metabolic diseases

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