Hereditary Sensory & Autonomic Neuropathy Type 2

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Contents 1 Pathology 2 Genetics 3 Clinical-manifestations 4 Laboratory 5 More General Terms 6 Internet Database 7 References

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

Laboratory

• nerve conduction study

• absence of sensory nerve action potentials

More General Terms

• hereditary sensory & autonomic neuropathy

Internet Database

OMIM: 201300

References

OMIM [1]

hereditary sensory & autonomic neuropathy type 2; hereditary sensory radicular neuropathy; neurogenic acroosteolysis