Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey

2012 ◽  
Vol 46 (2) ◽  
pp. 295-296
Author(s):  
Steven Scherer
Keyword(s):  
Nerve Conduction ◽  
Nerve Conduction Studies ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Case 22

2018 ◽  
Author(s):  
Bashar Katirji
Keyword(s):  
Differential Diagnosis ◽  
Clinical Practice ◽  
Nerve Conduction ◽  
Nerve Conduction Studies ◽  
Genetic Defects ◽  
Neurological Manifestations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Inherited Neuropathy ◽  
Tooth Disease

Charcot-Marie-Tooth disease is the most common inherited neuropathy encountered in clinical practice. The disorder encompasses a large number of subtypes; most share common neurological manifestations. Charcot-Marie-Tooth disease is often subdivided into many subtypes based on pathophysiological or inheritance patterns. There are demyelinating and axonal types, as well as dominant, recessive, or X-linked forms. This case presents a typical patient with Charcot-Marie-Tooth disease and highlights the neurological findings. This is followed by emphasis on the findings seen on nerve conduction studies showing the differences between the demyelinating, axonal, and intermediate types. A list of the known genetic defects described so far is presented. A working and practical differential diagnosis and algorithm is also suggested.

Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey

2011 ◽  
Vol 43 (5) ◽  
pp. 657-664 ◽  
Author(s):  
Feza Deymeer ◽  
Zeliha Matur ◽  
Muruvvet Poyraz ◽  
Esra Battaloglu ◽  
Piraye Oflazer-Serdaroglu ◽  
...  
Keyword(s):  
Nerve Conduction ◽  
Nerve Conduction Studies ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Homozygous Expression of a Dominant Gene Causing Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease)

1974 ◽  
Vol 23 (S1) ◽  
pp. 217-220 ◽  
Author(s):  
H. Warner Kloepfer ◽  
James M. Killian
Keyword(s):  
Clinical Features ◽  
Nerve Conduction ◽  
Peripheral Nerves ◽  
Muscular Atrophy ◽  
Dominant Gene ◽  
Conduction Time ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Peroneal Muscular Atrophy ◽  
Tooth Disease

This study involves the presentation of a kindred from Southwestern Louisiana showing 66 individuals who were heterozygous for a rare dominant gene for a type of Charcot-Marie-Tooth disease with hypertrophy of peripheral nerves. Two marriages between heterozygotes resulted in the occurrence of five homozygous offsprings. Clinical features of these previously undescribed homozygotes are compared to the clinical features of the classic type of heterozygote. The value of using nerve-conduction time to detect the asymptomatic heterozygote for Charcot-Marie-Tooth disease is discussed.

scholarly journals Study of a Family with Progressive Ataxia, Tremor and Severe Distal Amyotrophy

1980 ◽  
Vol 7 (4) ◽  
pp. 345-349 ◽  
Author(s):  
J. Bouchard ◽  
P. Bedard ◽  
R. Bouchard
Keyword(s):  
Nerve Conduction ◽  
Motor Nerve ◽  
Elevated Serum ◽  
Sensory Nerve ◽  
Cerebellar Atrophy ◽  
Large Family ◽  
Charcot Marie Tooth ◽  
Progressive Development ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

SUMMARY:We have studied a large family of which seven members suffer from a progressive disease with onset in the first decade. The first symptoms were gait ataxia and clumsiness in all cases, followed by progressive development of severe distal amyotrophy reminiscent of Charcot-Marie-Tooth disease. In four patients a postural tremor which was relieved by pharmacological agents was also evident in the limbs or head.Cerebellar atrophy was confirmed on CT scan. Motor nerve conduction velocities were in the low normal range, while sensory nerve conduction was markedly decreased. All patients had impaired proprioception and vibration sense. The laboratory investigation revealed a normal CSF protein level and elevated serum bilirubin.The patients reported in this study apparently suffer from an original recessive form of spinal and olivocerebellar degeneration associated with a neuronal form of Charcot-Marie-Tooth disease.

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