Mitochondrial Myopathy

Diagnosis

None of the hallmark symptoms of mitochondrial disease — muscle weakness, exercise intolerance, hearing impairment, ataxia, seizures, learning disabilities, cataracts, heart defects, diabetes and stunted growth — are unique to mitochondrial disease. However, a combination of three or more of these symptoms in one person strongly points to mitochondrial disease, especially when the symptoms involve more than one organ system.

Types of Mitochondrial Myopathies

This page contains information about the nine most common mitochondrial myopathies and encephalomyopathies. They are:

Overview

What are mitochondrial myopathies?

Systems, organs and muscles affected by the various mitochondrial myopathies
  1. Nervous system: Seizures, spasms, developmental delays, deafness, dementia, stroke (often before age 40), visual system defects, poor balance, problems with peripheral nerves

Mitochondrial Myopathies

Description: 

MDA leads the search for treatments and therapies for mitochondrial myopathies. The Association also provides comprehensive supports and expert clinical care for those living with mitochondrial myopathies.

In this section, you’ll find up-to-date information about mitochondrial myopathies, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

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

Edison drugs target FA, mitochondrial 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.

MDA Awards $13.5 Million in Research Grants

The Muscular Dystrophy Association has awarded 44 grants totaling $13.5 million to support research efforts aimed at advancing understanding of disease processes and uncovering new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association’s program.

The new grants were reviewed by MDA’s Scientific and Medical Advisory Committees, and approved by MDA’s Board of Directors at its December meeting.

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.

Pages