We established a new disease autosomal dominant
hereditary motor and sensory neuropathy with proximal dominant involvement (
HMSNP) in 1997, in Okinawa, Japan. This disease is characterized by proximal dominant neurogenic
atrophy with
fasciculations, painful
muscle cramp, obvious sensory nerve involvement, areflexia, high incidence of elevated
creatine kinase levels,
hyperlipidemia and
hyperglycemia. (MIM %604484).
HMSNP is so called or
HMSNO (
HMSN OKINAWA type),. These clinical features resembled those of Kennedy-Alter-Sung syndrome. Most
HMSNP patients have severe
muscle atrophy and finally the
tracheostomy and artificial ventilation are required. Therefore, we initially thought to classify
HMSNP into a subtype of
motor neuron disease (MND) like familial
amyotrophic lateral sclerosis (FALS) or
spinal muscular atrophy (SMA). However, the general consensus for MND was no sensory involvement. Therefore, as the disease showed severe sensory involvement, we categorized
HMSNP in subtype of
HMSN at that time. We also reported the pathology of
HMSNP, showing severely decreased anterior horn cells, decreased posterior horn cells, and loss of posterior funiculus in the spinal cord.