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hereditary sensory & autonomic neuropathy type 2; hereditary sensory radicular neuropathy; neurogenic acroosteolysis
Pathology:
1) impairment of pain, temperature & touch sensation due to a reduction or absence of peripheral sensory neurons
2) virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves
Genetics:
1) autosomal recessive disorder
2) associated with defects in HSN2 gene
3) associated with devects in WNK1 gene
Clinical manifestations:
1) onset of symptoms in infancy or early childhood
2) occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and necrosis Charcot joints)
3) frequent amputations
4) sensory loss that affects all modalities of sensation (lower & upper limbs & perhaps the trunk)
5) absence or diminution of tendon reflexes (usually in all limbs)
6) minimal autonomic dysfunction
Special laboratory:
- nerve conduction study
- absence of sensory nerve action potentials
General
hereditary sensory & autonomic neuropathy
Database Correlations
OMIM 201300
References
OMIM :accession 201300