U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neuropathy, hereditary sensory and autonomic, type 1A

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
view full author information

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.