Charcot-Marie-Tooth Disease Type 1A

Common Name(s)

Charcot-Marie-Tooth Disease Type 1A

Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease Type 1A" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 1A" returned 36 free, full-text research articles on human participants. First 3 results:

Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.
 

Author(s): Nicholas E Johnson, Chad R Heatwole, Michele Ferguson, Janet E Sowden, Shanie Jeanat, David N Herrmann

Journal: J Clin Neuromuscul Dis. 2013 Sep;15(1):19-23.

 

The burden of Charcot-Marie-Tooth type 1A (CMT1A), the most common inherited peripheral neuropathy, including impact on patient quality of life (QOL) is not well understood. This study aims to qualitatively describe the range of symptoms associated with CMT1A and impact on QOL.

Last Updated: 22 Aug 2013

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Quality of life in patients with Charcot-Marie-Tooth disease type 1A.
 

Author(s): Juliana B Taniguchi, Valéria M C Elui, Flávia L Osório, Jaime E C Hallak, José A S Crippa, João P Machado-de-Sousa, Leonardo M Kebbe, Charles M Lourenço, Raquel M Scarel-Caminaga, Wilson Marques

Journal: Arq Neuropsiquiatr. 2013 Jun;71(6):392-6.

 

We assessed the functional impairment in Charcot-Marie-Tooth resulting from 17p11.2-p12 duplication (CMT1A) patients using the Short-Form Health Survey (SF-36), which is a quality of life questionnaire. Twenty-five patients of both genders aged ≥10 years with a positive molecular ...

Last Updated: 5 Jul 2013

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Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study.
 

Author(s): Maurizio Ferrarin, Tiziana Lencioni, Marco Rabuffetti, Isabella Moroni, Emanuela Pagliano, Davide Pareyson

Journal:

 

In a previous study we identified 3 different gait patterns in a group of children with CMT1A disease: Normal-like (NL), Foot-drop (FD), Foot-drop and Push-off Deficit (FD&POD). Goal of the present study was to perform a follow-up evaluation of the same group of patients to analyze ...

Last Updated: 11 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Charcot-Marie-Tooth Disease Type 1A" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 13 Dec 2012

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Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)
 

Status: Not yet recruiting

Condition Summary: Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth Disease Type 1A

 

Last Updated: 3 Feb 2011

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Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
 

Status: Recruiting

Condition Summary: Charcot-Marie-Tooth Disease, Type Ia (Disorder); HMSN

 

Last Updated: 25 Mar 2014

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