title: A new form of congenital proprioceptive sensory neuropathy associated with arthrogryposis multiplex.
abstract: We report two siblings who presented with non-progressive marked sensory ataxia associated with arthrogryposis multiplex congenita (AMC). Deep tendon reflexes and H reflex were completely absent, but F waves were preserved. The sensory nerve conduction studies indicated the presence of relatively mild sensory polyneuropathy. The conventional somatosensory evoked potentials (SEPs) showed mildly prolonged latency for both the peripheral and cortical responses, suggesting a slowed conduction through the peripheral as well as central pathway. However, the 'proprioceptive SEPs' were absent, in conformity with complete loss of joint sense. Sural nerve biopsy revealed only mild thinning of myelin in the younger sister but was entirely normal in her brother. Taken together with the characteristic electrophysiological findings, the symptoms were considered to be due to predominant involvement of a selective population of somatosensory ganglions. The present cases showed no progression of the neurological deficit what-so-ever since birth, which strongly suggests a developmental anomaly or aplasia of a limited population of peripheral sensory neurons.
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shibasaki
authors.forename: Takefumi
authors.initials: T
authors.lastname: Hitomi
authors.forename: Takahiro
authors.initials: T
authors.lastname: Mezaki
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kihara
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Tomimoto
authors.forename: Akio
authors.initials: A
authors.lastname: Ikeda
authors.forename: Shun
authors.initials: S
authors.lastname: Shimohama
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ito
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Oka
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000328:Adult; D001176:Arthrogryposis / Q000150:complications*; D005260:Female; D006181:H-Reflex / Q000502:physiology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology; D009186:Myelin Sheath / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology; D009431:Neural Conduction / Q000502:physiology; D011434:Proprioception / Q000502:physiology*; D012026:Reflex, Stretch / Q000502:physiology; D035781:Siblings; D013497:Sural Nerve / Q000503:physiopathology