Hereditary sensory neuropathy HSN (Hereditary sensory autonomic polyneuropathy HSAN)


Hereditary sensory neuropathy HSN or Hereditary sensory autonomic polyneuropathy HSAN


Clinical +genetic testing

Clinical features:

All have sensory neuropathy without motor features

HSN1 a.k.a. Denny-Brown neuropathy:

Clinical features:
  • Loss of pain and temperature sensation, ulceration of feet and hands, Charcot joints. No autonomic features
Findings on investigations:

NCS/EMG: axonal

HSN2 a.k.a. congenital sensory neuropathy, formerly Morvan’s disease:

Clinical features:

Onset in infancy

HSN3, a.k.a. Familial dysautonomia a.k.a. Riley-Day syndrome:

Autosomal recessive, IKBKAP gene chromosome 9

Clinical features:
  • Absent fungiform papillae of the tongue (smooth tongue)
  • Absent reflexes
  • Alacrima, Hypersensitivity of pupils to parasympathomimetics, dry mouth, absent skin response to scratch and histamine injection, orthostatic hypotension
Sural nerve biopsy:

Markedly diminished number of unmyelinated and small-diameter myelinated axons

HSN4 a.k.a. congenital sensory neuropathy with loss of sweating:

Autosomal recessive

Clinical features:

Infants. Fever, loss of pain sensation

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