Metabolic Diseases of Muscle

Signs and Symptoms

This section covers the following signs and symptoms of metabolic diseases of muscle:

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

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.

Biobank Collecting Blood Samples for Neuromuscular Disease Research

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Study Seeks People With Uncertain MD Diagnoses

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.

Lumizyme Now Commercially Available for Pompe

 Monique Griffin of Orlando, Fla., was one of the first in the nation to receive the commercially available treatment Lumizyme for acid maltase deficiency (AMD, or Pompe disease).

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