Sptlc1-Related Hereditary Sensory Neuropathy

Genetics Home Reference : ²⁵ Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance. Individuals with hereditary sensory neuropathy type IA typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek immediate treatment. Without treatment, the ulcers can become infected and may require amputation of the surrounding area or limb. Some people with hereditary sensory neuropathy type IA develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss typically develops in middle to late adulthood. The signs and symptoms of hereditary sensory neuropathy type IA can begin anytime between adolescence and late adulthood. While the features of this condition tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.

MalaCards based summary : Sptlc1-Related Hereditary Sensory Neuropathy, also known as hereditary sensory neuropathy type ia, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and neuropathy, hereditary sensory and autonomic, type ic. An important gene associated with Sptlc1-Related Hereditary Sensory Neuropathy is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1).

GeneReviews: NBK1390

Search Clinical Trials , NIH Clinical Center for Sptlc1-Related Hereditary Sensory Neuropathy

Search GEO for disease gene expression data for Sptlc1-Related Hereditary Sensory Neuropathy.