Charcot Marie Tooth disease 1A (CMT1A)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 1A (CMT1A). This is caused by duplication or point mutations of the PMP22 gene on chromosome 17.
Genetics
- This is caused by duplication or point mutations of the PMP22 gene on chromosome 17
- The gene dosage correlates with phenotype
Main neurological features
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Other neurological features
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Abnormal gait patterns
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Overlap features
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Acronym
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References
- Amato AA, Russell JA. Neuromuscular disorders. McGraw Hill New York 2008 Chapter 9.
- Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
- Chanson JP, Echaniz-Lugan A, Blanco F, et al. Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study. JNNP 2013; 84:392-397.
- Boentert M, Knop K, Schumacher Charcot, Gess Be, Okegwo A, Young P. Sleep disorders in Charcot-Marie-Tooth disease type 1. JNNP 2014; 85:319-325.
- Rossor AM, Murphy S, Reilly MM. Knee bobbing in Charcot-Marie-Tooth disease. Pract Neurol 2012; 12:182-183.
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