Hereditary motor and sensory neuropathy with calf muscle enlargement.
We report three related patients with autosomal dominant hereditary motor and sensory neuropathy (HMSN). An unusual and characteristic feature was calf enlargement, caused by muscle fiber hypertrophy predominantly of type 1 fibers. None of the family members showed atrophy of the legs. Sural nerve pathology disclosed marked loss of myelinated fibers and numerous onion bulb formations. While cases of HMSN with calf muscle hypertrophy have been reported, the present pedigree was different from that in any of the previous cases in that no family member showed clinically apparent leg atrophy.
Sakashita
Y
Y
Department of Neurology, Kanazawa University School of Medicine, Japan.
Sakato
S
S
Komai
K
K
Takamori
M
M
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D005071:Evoked Potentials; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D007866:Leg; D009132:Muscles / Q000000981:diagnostic imaging / Q000294:innervation / Q000473:pathology*; D009431:Neural Conduction; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology; D014057:Tomography, X-Ray Computed