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Tuberous Sclerosis

Medline NLM definition: An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina.  There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes. Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS; INFANTILE; Shagreen patches on the trunk; and subungual fibromas.

Tuberous sclerosis: information from the NHS website

Tuberous Sclerosis: factsheet from NINDS, the National Institute of Neurological Disorders and Stroke information (US site)

Tuberous Sclerosis: information from NORD, the National Organization for Rare Disorders (US site)

PubMed Medline search on tuberous sclerosis
 

Support Groups


Tuberous Sclerosis Association
Supporting sufferers, promoting awareness, and seeking causes and best possible management of Tuberous Sclerosis.  Publishes a newsletter three times a year.

Contact
Has information on over 1,000 rare syndromes and rare disorders and can put families in touch with each other. Also gives access to a database on rare conditions and disorders.

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.

 

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