+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
EurekaMag Most Shared ContentMost Shared
EurekaMag PDF Full Text ContentPDF Full Text
+ PDF Full Text
Request PDF Full TextRequest PDF Full Text
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter
Follow on LinkedInFollow on LinkedIn

+ Translate

Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity

Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity

Journal of the Neurological Sciences 63(1): 11-25

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.

(PDF emailed within 1 workday: $29.90)

Accession: 043733341

Download citation: RISBibTeXText

PMID: 6699650

Related references

Neuronal type of Charcot-Marie-Tooth Disease with a syndrome of contrinuous motor unit activity. Journal of the Neurological Sciences 63(1): 11-25, 1984

Degeneration of anterior horn cell in neuronal type of Charcot-Marie-tooth disease (hereditary motor and sensory neuropathy type II): A golgi study. Acta Neuropathologica 85(6): 596-601, 1993

A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot-Marie-Tooth disease. Clinical Genetics 31(2): 109-113, 1987

Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score. Journal of Clinical Neurophysiology 34(6): 508-511, 2017

Age-related changes in motor unit number estimates in adult patients with Charcot-Marie-Tooth type 1A. European Journal of Neurology 17(8): 1098-1104, 2010

Motor unit number index correlates with disability in Charcot-Marie-Tooth disease. Clinical Neurophysiology 129(7): 1390-1396, 2018

Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease. Muscle & Nerve 28(2): 161-167, 2003

Proximal and distal motor unit number estimation in patients with Charcot Marie tooth disease. Neurology 52(6 SUPPL 2): A217, April 12, 1999

Central motor pathway evaluation using magnetic coil stimulation in hereditary motor and sensory neuropathy type I (HMSN type I, Charcot-Marie-Tooth disease). International Journal of Neuroscience 92(3-4): 145-159, 1998

Carbamazepine-sensitive neuromyotonia and Charcot-Marie-Tooth disease of the neuronal type. Revue Neurologique 145(12): 867-868, 1989

Neuronal type of neural muscular atrophy charcot marie tooth disease. Acta Universitatis Palackianae Olomucensis Facultatis Medicae 90: 229-240, 1979

Comparative morphometric study of motor unit pattern in charcot marie tooth disease and in amyotrophic lateral sclerosis. Neuropathology & Applied Neurobiology 3(3): 218-219, 1977

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group. American Journal of Human Genetics 58(6): 1223-1230, 1996

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a). Neurology 43(5): 1010-1015, 1993

An autopsy case of neuronal type Charcot-Marie-Tooth disease (HMSN type II) with nerve deafness and psychiatric symptoms. No to Shinkei 44(6): 571-578, 1992