Charcot-Marie-Tooth Disease Type 2B

Common Name(s)

Charcot-Marie-Tooth Disease Type 2B, Distal hereditary motor neuronopathy type 2B

Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. Symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. Symptoms of CMT2B vary but tend to be similar to that of CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease Type 2B" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Charcot-Marie-Tooth Disease Type 2B" returned 4 free, full-text research articles on human participants. First 3 results:

Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.
 

Author(s): Laura Cogli, Cinzia Progida, Claire L Thomas, Bradley Spencer-Dene, Claudia Donno, Giampietro Schiavo, Cecilia Bucci

Journal: Acta Neuropathol.. 2013 Feb;125(2):257-72.

 

Charcot-Marie-Tooth type 2B (CMT2B) is a peripheral ulcero-mutilating neuropathy caused by four missense mutations in the rab7a gene. CMT2B is clinically characterized by prominent sensory loss, distal muscle weakness leading to muscle atrophy, high frequency of foot ulcers and infections ...

Last Updated: 21 Jan 2013

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Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease.
 

Author(s): Maria Rita Spinosa, Cinzia Progida, Azzurra De Luca, Anna Maria Rosaria Colucci, Pietro Alifano, Cecilia Bucci

Journal: J. Neurosci.. 2008 Feb;28(7):1640-8.

 

Charcot-Marie-Tooth (CMT) type 2 neuropathies are a group of autosomal-dominant axonal disorders genetically and clinically heterogeneous. In particular, CMT type 2B (CMT2B) neuropathies are characterized by severe sensory loss, often complicated by infections, arthropathy, and amputations. ...

Last Updated: 14 Feb 2008

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Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
 

Author(s): P De Jonghe, V Timmerman, D FitzPatrick, P Spoelders, J J Martin, C Van Broeckhoven

Journal: J. Neurol. Neurosurg. Psychiatr.. 1997 Jun;62(6):570-3.

 

Charcot-Marie-Tooth disease type 2 (CMT2) or hereditary motor and sensory neuropathy type II (HMSN II) is an inherited axonal neuropathy of the peripheral nervous system. Three autosomal dominant CMT2 loci have been located on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), and 7p14 ...

Last Updated: 31 Jul 1997

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Reviews from the PubMed Database

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The terms "Charcot-Marie-Tooth Disease Type 2B" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
 

Status: Recruiting

Condition Summary: Charcot Marie Tooth Disease

 

Last Updated: 25 Mar 2014

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