Rinsho Shinkeigaku (Clinical Neurology)

Symposium 3

History of Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)

Hiroshi Takashima, M.D., Ph.D.1)

1)Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

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.
Full Text of this Article in Japanese PDF (617K)

(CLINICA NEUROL, 53: 1196|1198, 2013)
key words: HMSN-P, inherited neuropathy, motor neuron disease, HMSN(OKINAWA)

(Received: 31-May-13)