Charcot Marie Tooth disease (CMT): distinctive features

CMT1: Autosomal dominant demyelinating

• CMT1A: knee bob sign
• CMT1B: Adie pupil
• CMT1E: progressive sensorineural deafness
• CMT1F: cerebellar atrophy

CMT2: Autosomal dominant axonal

CMT4: Autosomal recessive demyelinating

CMT3-6

CMTX: X-linked

CMTDI: Autosomal dominant intermediate

CMTRI: Autosomal recessive intermediate

References

1. Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
2. Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
3. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. JNNP 2009; 80:1304–1314. 
4. 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.
5. 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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Related checklists

• Charcot Marie Tooth disease (CMT): genetic classification
• Charcot Marie Tooth disease (CMT): differentiating features
• Charcot Marie Tooth disease (CMT): investigations
• Charcot Marie Tooth disease (CMT): treatment