Hereditary sensory neuropathy-deafness-dementia syndrome

Orpha code: 456318OMIM code: 614116

Definition

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.

Disease data
Classification

Disease

Synonyms
HSAN1E
HSAN1E
HSN1E
Zespół dziedzicznej czuciowej neuropatii, czuciowo-nerwowej utraty słuchu i demencji
HSN1E
Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
ORPHA code
456318
OMIM code
614116
ICD10 code
G60.8
ICD11 code
-

No additional description.

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