UCL Queen Square Institute of Neurology


Leigh's Disease

Medline NLM definition: A disease of pyruvate metabolism manifesting in infancy with psychomotor retardation, dysphagia, hypotonia, ataxia, weakness, external ophthalmoplegia, vision loss, hearing loss, and convulsions. It was described by Leigh in 1951 and is now thought to be an inherited enzyme defect.

Leigh Syndrome: information from NORD, the National Organization for Rare Disorders (US site)

PubMed Medline search on Leigh's Disease

Support Groups

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 mitochondrial 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.

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.