Hereditary sensory and autonomic neuropathy type 1E

Disease Overview

Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSAN1E is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner.[6256][6257] There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia.[6257]

Synonyms

• Hereditary sensory neuropathy with hearing loss and dementia
• Hereditary sensory neuropathy type IE
• DNMT1-Related Dementia, Deafness, and Sensory Neuropathy
• HSNIE
• HSAN1E
• Hereditary sensory neuropathy-deafness-dementia syndrome
• Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
• HSN1E