Neuropathy, hereditary sensory, type Ie

Overview

Type of disease: Rare conditions

Hereditary sensory neuropathy type IE (HSNIE) is a degenerative disorder of the central and peripheral the nervous systems. It is characterized by sensory impairment of the feet and lower legs (affecting sensations such as pain, temperature, and touch), loss of the ability to sweat (sudomotor function) in the hands and feet, sensorineural hearing loss, and gradual loss of intellectual function (dementia). Symptoms typically begin in the twenties or thirties, although age of onset and symptom severity are variable, even within families. HSNIE is caused by mutations in the DNMT1 gene. This condition is inherited in an autosomal dominant pattern. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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