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Tay-Sachs Disease

Medline MLM definition: An autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot. Hexosaminidase A (see BETA-N-ACETYLHEXOSAMINIDASE) is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This condition is strongly associated with Askenazic Jewish ancestory.

Tay-Sachs disease: information from the NHS website

Pubmed Medline search on Tay-Sachs 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.

Cure & Action for Tay-Sachs (CATS) Foundation
This charity provides support, raises awareness and funds the research for Tay-Sachs and Sandhoff disease.

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.

Genetic Alliance UK
This alliance of over 200 patient organisations works on campaigns, consultations and engagement projects to ensure their work accurately reflects the needs and concerns of patients and families affected by all types of genetic conditions. Their mission is to ensure that high quality services, information and support are provided to all. They actively support research and innovation across the field of genetic medicine.

National Tay-Sachs & Allied Diseases Association  (NTSAD)
An American foundation for people with Tay-Sachs disease. (US site)

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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