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