Charcot Marie Tooth disease (CMT): distinctive features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease (CMT): distinctive features. CMT1A: knee bob sign, CMT1B: Adie pupil. Fully referenced neurology checklist.
CMT1: Autosomal dominant demyelinating
- CMT1A: knee bob sign
- CMT1B: Adie pupil
- CMT1E: progressive sensorineural deafness
- CMT1F: cerebellar atrophy
CMT2: Autosomal dominant axonal
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CMT4: Autosomal recessive demyelinating
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CMT3-6
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CMTX: X-linked
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CMTDI: Autosomal dominant intermediate
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CMTRI: Autosomal recessive intermediate
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References
- Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
- Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
- Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. JNNP 2009; 80:1304–1314.
- 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.
- Kousseff BG, Hadro TA, Treiber DL, Wollner T, Morris C. Charcot-Marie-Tooth disease with sensorineural hearing loss-an autosomal dominant trait. Birth Defects Orig Artic Ser 1982; 18:223-228.
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