UCL Queen Square Institute of Neurology


Mitochondrial Myopathy

Medline NLM definition: Diseases of the muscles characterized by morphologic changes in mitochondria and often associated with excessive lipid accumulation. Muscle biopsies reveal "the presence of overly abundant and large mitochondria (often containing abnormal inclusions and cristae) in many muscle fibers. The terms mitochondrial and lipid storage have been used interchangeably to designate these myopathies, since the enzymes essential for intramuscular lipid metabolism are contained in the mitochondria, and a defect in the latter results in an abnormal accumulation of lipid bodies in muscle fibers." Often defects in various oxidative enzymes figure. One type of mitochondrial myopathy is called pleoconial with reference to "a remarkably large number (pleo-) of enlarged mitochondria in the biopsied muscle", another is "called megaconial with reference to giant (mega-) mitochondria in the muscle." (Adams and Victor: Principles of Neurology, 2d ed, p980-1).

Mitochondrial myopathies: factsheet from NINDS, the National Institute of Neurological Disorders and Stroke information (US site).

PubMed Medline search on mitochondrial myopathy.

Support Groups

The Children’s Mitochondrial Disease Network
The Children’s Mitochondrial Disease Network is the only parental and professional based registered organization Within the UK specializing in the complexities of Mitochondrial and associated disorders.

Metabolic Support UK
Metabolic Support UK (formerly known as Climb - Children Living with Inherited Metabolic Diseases) are the leading patient organisation for Inherited Metabolic Disorders supporting thousands of patients worldwide.

United Mitochondrial Disease Foundation (US site)
Aims to promote research for cures and treatments of mitochondrial diseases and to provide support to affected families. Gives information on mitichondrial diseases, funds research, gives support and advice to affected families. Also gives an extensive list of links to other sites of interest.

Brain and Spine Foundation
Information on living with a neurological condition and on diagnosis. There are publications and resources. The useful glossary of neurological conditions (under 'Information and support') includes links to some other organisations as well as to Brain and Spine Foundation information.

Healthtalk: nerves and brain
Personal experiences of people living with various neurological conditions.

Neurological Alliance
Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. Site also includes information about living with a neurological condition, a glossary, and information about onset and diagnosis as well as a small set of real life stories.

NHS Inform: brain, nerves and spinal cord 
NHS inform is Scotland's national health information service, with the aim of providing the people in Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for.