Proximal Dominant Hereditary Motor and Sensory Neuropathy with TFG Mutation

Abstract

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare degenerative disorder inherited in an autosomal dominant fashion. This disease was described first in Japanese descendants from Okinawa and Shiga prefectures in mainland Honshu in 1997. The disease is characterized by adult onset of proximal weakness and atrophy, muscle cramps, fasciculations, areflexia, high incidence of elevated creatine kinase, hyperlipidemia, and diabetes mellitus, resembling Kennedy disease, though the mode of inheritance is autosomal dominant, rather than X linked. We examined a 56-year-old male patient with clinical features suggestive of HMSN-P and positive family history in an autosomal dominant fashion. Clinical, electrophysiological, and genetic factors were also reviewed. The appearance of HMSN-P in India and elsewhere calls for clinicians in nonendemic regions to be familiar with this rare disorder, which has typically been geographically confined.

Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis

“…Advanced-stage HMSN-P results in severe amyotrophic lateral sclerosis (ALS)like quadriplegia. HMSN-P has recently spread not only in Japan's Okinawa and Shiga prefectures but around the world, including sporadic cases in India (4)(5)(6). In 2017, Fujisaki et al analysed the natural history of 97 patients with HMSN-P in Okinawa whose cases had been documented since 1980, and they reported a natural course of 20 to 30 years from the initial painful muscle cramps and four-limb paralysis to respiratory dysfunction (3).…”