Progression of Charcot-Marie-Tooth Foot Deformities in a Family With CMT1A

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Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease

INTRODUCTION Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there are no prospective, randomized studies on surgical management, and there is variation in the approaches among centers both within and between countries. METHODS In this study we assessed the frequency of foot deformities and surgery among p...

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Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine

Charcot-Marie-Tooth (CMT) disease is a hereditary demyelinating disease of the peripheral nervous system that results in sensory and motor dysfunction. CMT includes a spectrum of diseases with different types of mutations in the genes encoding myelin protein, resulting in a variety of dysfunctions in its life cycle. In CMT subtype 1A there is duplication mutation of peripheral myelin protein 22...

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Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

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Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

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A family study of Charcot-Marie-Tooth disease.

Forty-seven cases of Charcot-Marie-Tooth peripheral neuropathy were seen in 18 families within a defined area, with a disease prevalence of 1 in 16 400. Maximum motor nerve conduction velocity (MNCV) measurement divided off two types of neuropathy (MNCV less than 30 ms-1 and greater than 40 ms-1), but did not distinguish clinically affected from normal in families whose probands had median nerv...

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ژورنال

عنوان ژورنال: RRNMF Neuromuscular Journal

سال: 2020

ISSN: 2692-3092

DOI: 10.17161/rrnmf.v1i3.13704