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Neuropathy, hereditary sensory and autonomic, type 1A

Synonyms
HSAN IA; HSN IA; Hereditary Sensory Neuropathy Type IA; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A

Summary

Excerpted from the GeneReview: SPTLC1-Related Hereditary Sensory Neuropathy
SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Garth A Nicholson
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Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS27, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, SPTLC1
    Summary: serine palmitoyltransferase long chain base subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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