Hereditary Motor Sensory Neuropathy Type I Presenting as Scapuloperoneal Atrophy (Davidenkow Syndrome) Electrophysiological and Pathological Studies

Canadian Journal of Neurological Sciences - Tập 13 Số 3 - Trang 264-266 - 1986
Gabriel M. Ronen1, Noel Lowry1, John H. Wedge2, Harvey B. Sarnat3, Alan Hill1
1Departments of Paediatrics and Clinical Neurological Sciences, University of Saskatchewan
2Department of Orthopedics, University of Saskatchewan
3Departments of Paediatrics, Pathology and Clinical Neurosciences, University of Calgary

Tóm tắt

ABSTRACT:

A 14 year old boy with scapuloperoneal muscular atrophy, pes cavus, areflexia and distal sensory loss (Davidenkow syndrome) is described. Nerve conduction velocities were diminished. Sural nerve biopsy demonstrated a reduction in the number of myelinated fibers and early “onion-bulb” formation. These observations support the hypothesis that the scapuloperoneal amyotrophy associated with distal sensory loss may represent a variant of type I hereditary motor sensory neuropathy.

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Tài liệu tham khảo

Tsukagoski, 1969, A family with scapuloperoneal muscular atrophy, Clin Neurol (Tokyo), 9, 511

Serratrice, 1984, Trois cas d’amyotrophie scapulopéronière neurogène (syndrome de Davidenkow), Rev Neurol (Paris), 140, 738

Harding, Distal and scapuloperoneal distribution of muscle involvement occurring within a family with Type 1 hereditary motor and sensory neuropathy, J Neurol, 1980, 17

10.1093/brain/88.2.407

Stark, 1958, Étude clinique et génétique d’une famille atteinted’atrophie musculaire progressive neurale, J Genet Hum, 7, 1

10.1136/jnnp.35.2.208

Feigenbaum, 1970, A neuromuscular syndrome of scapuloperoneal distribution, Bull Los Angeles Neurol Soc, 35, 47

10.1159/000114689

Toghi, 1971, Neurogenic scapuloperoneal syndrome with autosomal recessive inheritance, Clin Neurol (Tokyo), 11, 215

10.1007/BF01669014

10.1001/archneurpsyc.1939.02270160050004

10.1136/jnnp.38.11.1063

Serratrice, 1982, Les syn- dromes scapulo-péroniers, Rev Neurol (Paris), 138, 691