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[A case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development].
Rinsho Shinkeigaku. 1990 Apr; 30(4):448-51.RS

Abstract

An atypical case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development was described. The patient was a 15-year-old boy who had suffered from distal muscle weakness with atrophy of four limbs and deformities of hands and feet since age 6 months. These symptoms were slowly progressive. He had never walked. His parents were not consanguinous. His parents and two siblings were unremarkable on neurological examination and on nerve conduction studies. On neurological examination, he showed severe degree of muscle weakness and atrophy in the distal upper and lower limbs, moderate degree of muscle weakness and atrophy in the proximal upper limbs and slight degree of made weakness and atrophy in the proximal upper limbs. Deep tendon reflexes in four limbs were decreased or absent. Vibration sensation was moderately decreased in the distal parts of four limbs. On the nerve conduction studies, no sensory nerve potential was recorded in the median, ulnar and sural nerves bilaterally. Motor nerve conduction velocity of the right tibial nerve was 21 m/sec and the amplitude of the compound muscle action potential (M-wave) was 0.15 mV, and no M-wave was elicited with the electrical stimulation of the median, ulnar and peroneal nerves. Neelde EMG showed fibrillation potentials and giant spikes with a reduction of the number of motor units. On sural nerve biopsy, the densities of both myelinated and unmyelinated fibers were severely decreased.(

ABSTRACT

TRUNCATED AT 250 WORDS)

Authors+Show Affiliations

Department of Neurology, University of Occupational and Environmental Health.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

jpn

PubMed ID

2387117

Citation

Nakano, S, et al. "[A Case of Hereditary Motor and Sensory Neuropathy of Neuronal Type With Retardation of Motor Development]." Rinsho Shinkeigaku = Clinical Neurology, vol. 30, no. 4, 1990, pp. 448-51.
Nakano S, Ohnishi A, Yamamoto T, et al. [A case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development]. Rinsho Shinkeigaku. 1990;30(4):448-51.
Nakano, S., Ohnishi, A., Yamamoto, T., Oishi, T., & Murai, Y. (1990). [A case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development]. Rinsho Shinkeigaku = Clinical Neurology, 30(4), 448-51.
Nakano S, et al. [A Case of Hereditary Motor and Sensory Neuropathy of Neuronal Type With Retardation of Motor Development]. Rinsho Shinkeigaku. 1990;30(4):448-51. PubMed PMID: 2387117.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development]. AU - Nakano,S, AU - Ohnishi,A, AU - Yamamoto,T, AU - Oishi,T, AU - Murai,Y, PY - 1990/4/1/pubmed PY - 1990/4/1/medline PY - 1990/4/1/entrez SP - 448 EP - 51 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 30 IS - 4 N2 - An atypical case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development was described. The patient was a 15-year-old boy who had suffered from distal muscle weakness with atrophy of four limbs and deformities of hands and feet since age 6 months. These symptoms were slowly progressive. He had never walked. His parents were not consanguinous. His parents and two siblings were unremarkable on neurological examination and on nerve conduction studies. On neurological examination, he showed severe degree of muscle weakness and atrophy in the distal upper and lower limbs, moderate degree of muscle weakness and atrophy in the proximal upper limbs and slight degree of made weakness and atrophy in the proximal upper limbs. Deep tendon reflexes in four limbs were decreased or absent. Vibration sensation was moderately decreased in the distal parts of four limbs. On the nerve conduction studies, no sensory nerve potential was recorded in the median, ulnar and sural nerves bilaterally. Motor nerve conduction velocity of the right tibial nerve was 21 m/sec and the amplitude of the compound muscle action potential (M-wave) was 0.15 mV, and no M-wave was elicited with the electrical stimulation of the median, ulnar and peroneal nerves. Neelde EMG showed fibrillation potentials and giant spikes with a reduction of the number of motor units. On sural nerve biopsy, the densities of both myelinated and unmyelinated fibers were severely decreased.(ABSTRACT TRUNCATED AT 250 WORDS) SN - 0009-918X UR - https://www.unboundmedicine.com/medline/citation/2387117/[A_case_of_hereditary_motor_and_sensory_neuropathy_of_neuronal_type_with_retardation_of_motor_development]_ L2 - http://www.diseaseinfosearch.org/result/4890 DB - PRIME DP - Unbound Medicine ER -