Refsum’s Disease/Type 4 HMSN

Wikis > Paediatrics > Neurological and Neuromotor Disorders > Refsum’s Disease/Type 4 HMSN

Refsum’s Disease/Type 4 HMSN

Characterised by anorexia, gait abnormalities, ichthyosis, night blindness, eye complications, hearing deficits, polyneuropathy with distal muscle weakness and muscular atrophy. Loss of sensation and pes cavus are common.

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