Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies

2004 ◽  
Vol 10 (6) ◽  
pp. 327-337 ◽  
Author(s):  
Tulio Bertorini ◽  
Pushpa Narayanaswami ◽  
Hani Rashed
Keyword(s):  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Diaphragmatic Dysfunction in Siblings with Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease)

CHEST Journal ◽  
1987 ◽  
Vol 91 (4) ◽  
pp. 567-570 ◽  
Author(s):  
Charles K. Chan ◽  
Vahid Mohsenin ◽  
Jacob Loke ◽  
Jim Virgulto ◽  
M. Leonide Sipski ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Diaphragmatic Dysfunction ◽  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Motor And Sensory Neuropathy

Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot-Marie-Tooth disease type 1a)

Neurology ◽  
1993 ◽  
Vol 43 (5) ◽  
pp. 1010-1010 ◽  
Author(s):  
J. E. Hoogendijk ◽  
E.A.M. Janssen ◽  
A. A.W.M. Gabreels-Festen ◽  
G. W. Hensels ◽  
E. M.G. Joosten ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Disease Type ◽  
Allelic Heterogeneity ◽  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Motor And Sensory Neuropathy

Cochlear implantation in a patient with deafness induced by Charcot–Marie–Tooth disease (hereditary motor and sensory neuropathies)

2006 ◽  
Vol 120 (6) ◽  
pp. 508-510 ◽  
Author(s):  
J T F Postelmans ◽  
R J Stokroos
Keyword(s):  
Cochlear Implantation ◽  
Transmembrane Domain ◽  
Point Mutations ◽  
Auditory Neuropathy ◽  
Heterogeneous Group ◽  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Close Proximity ◽  
Tooth Disease

Charcot–Marie–Tooth disease (CMT), also named hereditary motor and sensory neuropathies (HMSN), comprises a clinically and genetically heterogeneous group of disorders affecting the peripheral nervous system. Deafness induced by CMT is clinically distinct among the genetically heterogeneous group of CMT disorders. Deafness in CMT patients is associated with point mutations or deletions in the transmembrane domain in the peripheral myelin gene (PMP) 22, which are in close proximity to the extracellular component of this gene. We present a patient with deafness induced by CMT type 1A, undergoing cochlear implantation. Prior investigations showed good results due to replacing a synchronous impulse by means of cochlear implantation in patients with auditory neuropathy.

scholarly journals PROGRESS IN CLINICAL NEUROSCIENCES: Charcot-Marie-Tooth Disease and Related Inherited Peripheral Neuropathies

2001 ◽  
Vol 28 (3) ◽  
pp. 199-214 ◽  
Author(s):  
Timothy J. Benstead ◽  
Ian A. Grant
Keyword(s):  
Molecular Genetic ◽  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Inherited Neuropathy ◽  
Molecular Aspects ◽  
The Many ◽  
Inherited Neuropathies ◽  
Tooth Disease

The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinpoint a specific inherited neuropathy for many patients. However, clinical and electrophysiological assessments continue to be essential tools for diagnosis and management of this disease group. This article reviews clinical, electrophysiological, pathological and molecular aspects of hereditary motor and sensory neuropathies.

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