Clinical report of HMSN with proximal dominance in Shiga prefecture

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Rinsho Shinkeigaku. 2007 Sep;47(9):571-6.

Clinical report of hereditary motor and sensory neuropathy with

proximal dominance in Shiga prefecture

Takahashi M, Mitsui Y, Yorifuji S, Nakamura Y, Tsukamoto Y,

Nishimoto K.

Department of Neurology, Kinki University School of Medicine.

We followed eight hereditary motor and sensory neuropathy patients

with proximal dominance (HMSN-P) in Shiga prefecture from 1984 to

2007. There were 4 men and 4 women from two families showing

autosomal and dominant prepotency. These families were related by

marriage. The average onset of disease was at 53.4 +/- 8.9 (40-68)

years-old.

Initial symptoms were difficulty of standing up, difficulty

elevating their arms, limping, or numbness. The main feature was

neurogenic muscular atrophy with proximal dominance. All deep tendon

reflexes were decreased or nonexistent. Paresthesia in the hands and

feet and/or decreased vibratory sense in the legs were found in six

patients. High CK blood levels were recognized in three patients.

EMG in four patients revealed neurogenic pattern. Nerve conduction

study was conducted in two patients. MCV of the median nerve and of

the tibial posterior nerve, also SCV of the median nerve and of the

sural nerve were within normal range in all nerves. Amplitudes of

sensory action potential or of M wave were decreased or nonexistent

in five of eight nerves, and distal latency of M waves was delayed

in three of four nerves.

These data suggests dysfunction of distal parts of the peripheral

nerve fibers and axonal degeneration of the nerve trunk. Seven

patients have died, and their average death age was 69.1 +/- 8.2 (52-

77) years-old. Their average affected period was 16.6 (4-30) years.

Their clinical history resembles Okinawa-type HMSN-P, but without

the painful muscle cramps which are distinctive Okinawa-type signs.