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Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity.
J Neurol Sci. 1984 Jan; 63(1):11-25.JN

Abstract

The clinical, genetic and electrophysiological study of 3 patients with an association of a neuronal form of Charcot-Marie-Tooth Disease (CMTD) with a syndrome of continuous motor unit activity (CMUA) are reported, with light and electron microscopy of muscle and sural nerve biopsies in 2 patients. The unusual clinical features of CMTD were associated with fasciculation, cramps, myokymia, impaired muscular relaxation and percussion myotonia with their electromyographic (EMG) correspondent, responsive to valproic acid (VPA) therapy. In Case 3, an important muscle hypertrophy which was confirmed by morphometric data, was noted in addition. Nerve biopsy and electrophysiological findings indicated that axonal degeneration with secondary demyelination and remyelination underlie the hereditary motor and sensory neuropathy (HMSN) in our patients. The hyperexcitability and hyperactivity of peripheral motor axons probably induced by the hereditary neuropathy may, in this instance, be the causative condition of the syndrome of CMUA in our patients.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

6699650

Citation

Vasilescu, C, et al. "Neuronal Type of Charcot-Marie-Tooth Disease With a Syndrome of Continuous Motor Unit Activity." Journal of the Neurological Sciences, vol. 63, no. 1, 1984, pp. 11-25.
Vasilescu C, Alexianu M, Dan A. Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity. J Neurol Sci. 1984;63(1):11-25.
Vasilescu, C., Alexianu, M., & Dan, A. (1984). Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity. Journal of the Neurological Sciences, 63(1), 11-25.
Vasilescu C, Alexianu M, Dan A. Neuronal Type of Charcot-Marie-Tooth Disease With a Syndrome of Continuous Motor Unit Activity. J Neurol Sci. 1984;63(1):11-25. PubMed PMID: 6699650.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity. AU - Vasilescu,C, AU - Alexianu,M, AU - Dan,A, PY - 1984/1/1/pubmed PY - 1984/1/1/medline PY - 1984/1/1/entrez SP - 11 EP - 25 JF - Journal of the neurological sciences JO - J. Neurol. Sci. VL - 63 IS - 1 N2 - The clinical, genetic and electrophysiological study of 3 patients with an association of a neuronal form of Charcot-Marie-Tooth Disease (CMTD) with a syndrome of continuous motor unit activity (CMUA) are reported, with light and electron microscopy of muscle and sural nerve biopsies in 2 patients. The unusual clinical features of CMTD were associated with fasciculation, cramps, myokymia, impaired muscular relaxation and percussion myotonia with their electromyographic (EMG) correspondent, responsive to valproic acid (VPA) therapy. In Case 3, an important muscle hypertrophy which was confirmed by morphometric data, was noted in addition. Nerve biopsy and electrophysiological findings indicated that axonal degeneration with secondary demyelination and remyelination underlie the hereditary motor and sensory neuropathy (HMSN) in our patients. The hyperexcitability and hyperactivity of peripheral motor axons probably induced by the hereditary neuropathy may, in this instance, be the causative condition of the syndrome of CMUA in our patients. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/6699650/Neuronal_type_of_Charcot_Marie_Tooth_disease_with_a_syndrome_of_continuous_motor_unit_activity_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0022-510X(84)90105-9 DB - PRIME DP - Unbound Medicine ER -