Hereditary sensory neuropathy-deafness-dementia syndrome

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Synonyms: HSAN1E | HSN1E | Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome

A rare genetic neurological disorder characterized by sensorineural hearing loss sensory neuropathy behavioral abnormalities and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive with fatal outcome typically in the fifth to sixth decade.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Hereditary sensory neuropathy-deafness-dementia syndrome?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.