scholarly journals Diagnosis of Charcot-Marie-Tooth Disease

2009 ◽  
Vol 2009 ◽  
pp. 1-10 ◽  
Author(s):  
Isabel Banchs ◽  
Carlos Casasnovas ◽  
Antonia Albertí ◽  
Laura De Jorge ◽  
Mónica Povedano ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Sensory Neuropathy ◽  
Mutant Gene ◽  
Foot Drop ◽  
Abnormal Development ◽  
Genetic Transmission ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
New Genes ◽  
Electrophysiological Findings

Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked), according to electrophysiological findings (demyelinating or axonal), or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.

scholarly journals Hereditary Neuropathy with Analysis of Electrophysiological Findings: A Case Report

2017 ◽  
Vol 2 (1) ◽  
pp. 43-45
Author(s):  
Md Ferdous Mian ◽  
Md Enayet Hussain ◽  
Md Nahidul Islam ◽  
AFM Al Masum Khan ◽  
Rajib Nayan Chowdhury
Keyword(s):  
Gold Standard ◽  
Muscular Atrophy ◽  
Sensory Neuropathy ◽  
Clinical History ◽  
Hereditary Neuropathy ◽  
Inheritance Pattern ◽  
Charcot Marie Tooth ◽  
Myelin Sheaths ◽  
Electrophysiological Findings ◽  
Nerve Dysfunction

The hereditary motor and sensory neuropathies (HMSN) represent a genetically heterogeneous collection of disorders in which patients develop a progressive muscular atrophy and sensory neuropathy of the distal extremities. There are abnormalities of axons or Schwann cells and their myelin sheaths resulting in peripheral nerve dysfunction. These disorders are also known as Charcot-Marie-Tooth (CMT) disease, which is divided into seven distinct subtypes based on inheritance pattern (dominant, recessive, or X-linked) and whether the primary pathology is located in the myelin or axon. Each of these CMT types are further divided based on their specific molecular and genetic findings. Here we report a case which was diagnosed on the basis of clinical history and neurophysiological testing. Although genetic analysis is the gold standard for diagnosis we could not do it due to lack of availability of genetic testing in our country at this moment.Journal of National Institute of Neurosciences Bangladesh, 2016;2(1): 43-45

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 Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marco Orsini ◽  
Acary Souza Bulle Oliveira ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant’ Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Rare Form ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type Iv ◽  
Tooth Disease

scholarly journals Immediate effects of using ankle-foot orthoses in the kinematics of gait and in the balance reactions in Charcot-Marie-Tooth disease

2014 ◽  
Vol 21 (1) ◽  
pp. 87-93
Author(s):  
Rouse Barbosa Pereira ◽  
Lílian Ramiro Felício ◽  
Arthur de Sá Ferreira ◽  
Sara Lúcia de Menezes ◽  
Marcos Raimundo Gomes de Freitas ◽  
...  
Keyword(s):  
Ankle Joint ◽  
Gait Cycle ◽  
Lower Limbs ◽  
Foot Drop ◽  
Hereditary Neuropathy ◽  
Significant Interaction Effect ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Wilks Lambda ◽  
Dynamic Gait Index

The Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy with progressive distal muscle atrophy and weakness, mainly in lower limbs, that evolves limiting the gait and balance. The objective of the study was to analyse the immediate effects of using Ankle-Foot Orthosis (AFO) in the gait's kinematics and balance in patients with CMT. Nine individuals were evaluated by Tinetti scales and Dynamic Gait Index (DGI) and gait's kinematics parameters through the motion capturing system. These evaluations were done before and during the use of AFO. Two-Way repeated analysis of variance was done to try the main or interaction effects related to "orthoses" and "repetition". A significant interaction effect was observed between the gait cycle and use the AFO to the average velocity (Wilks' Lambda=0.156, p=0.030, η2=0.844) like significant main effects in the ankle joint to the gait cycle (Wilks' Lambda=0.091, p=0.008, η2=0.909) and the use of AFO (Wilks' Lambda=0.444, p=0.013, η2=0.556). It was observed a significant change in the DGI scale during the use of AFO (p<0.05). The use of AFO promoted immediate effects on gait kinematics and in balance reactions. The results suggest that the use of AFO is an efficient strategy to stabilize the ankle joint, besides avoiding foot drop in patients with CMT.

A Consensus Statement on the Surgical Treatment of Charcot-Marie-Tooth Disease

2020 ◽  
Vol 41 (7) ◽  
pp. 870-880 ◽  
Author(s):  
Glenn B. Pfeffer ◽  
Tyler Gonzalez ◽  
James Brodsky ◽  
John Campbell ◽  
Chris Coetzee ◽  
...  
Keyword(s):  
Consensus Statement ◽  
Sensory Neuropathy ◽  
Comprehensive Approach ◽  
Foot And Ankle ◽  
Clinical Experiences ◽  
Consensus Guidelines ◽  
Level Of Evidence ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Background: Charcot-Marie-Tooth (CMT) disease is a hereditary motor-sensory neuropathy that is often associated with a cavovarus foot deformity. Limited evidence exists for the orthopedic management of these patients. Our goal was to develop consensus guidelines based upon the clinical experiences and practices of an expert group of foot and ankle surgeons. Methods: Thirteen experienced, board-certified orthopedic foot and ankle surgeons and a neurologist specializing in CMT disease convened at a 1-day meeting. The group discussed clinical and surgical considerations based upon existing literature and individual experience. After extensive debate, conclusion statements were deemed “consensus” if 85% of the group were in agreement and “unanimous” if 100% were in support. Conclusions: The group defined consensus terminology, agreed upon standardized templates for history and physical examination, and recommended a comprehensive approach to surgery. Early in the course of the disease, an orthopedic foot and ankle surgeon should be part of the care team. This consensus statement by a team of experienced orthopedic foot and ankle surgeons provides a comprehensive approach to the management of CMT cavovarus deformity. Level of Evidence: Level V, expert opinion.

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