Statistics from Altmetric.com
Proximal hereditary motor and sensory neuropathy (HMSN-P) is an autosomal dominant neuromuscular disease with sensory symptoms that was first described in patients from Okinawa, a southern archipelago in Japan.1 The clinical features of HMSN-P include proximal dominant neurogenic atrophy with fasciculations, painful muscle cramp, sensory involvement and areflexia. Serum levels of creatine kinase are elevated and patients have a higher incidence of hyperlipidaemia and diabetes mellitus. The electrophysiological findings are consistent with motor and sensory axonal neuropathy. On neuropathological investigation, the sensorimotor neuronopathy is the cardinal feature in HMSN-P. However, brainstem pathology has yet to be elucidated.
HMSN-P is a slowly progressive intractable disease and some patients eventually require a tracheostomy with artificial ventilation, …