Charcot Marie Tooth disease (CMT): differentiating features

Deafness

• CMT1E
• CMT1F
• CMT2A
• CMT2J
• CMT2N
• CMT3
• CMT4C
• CMT4D
• CMTX4
• CMTX5
• CMT6
• CMTDIE

Vocal cord involvement

Phrenic nerve/respiratory involvement

Scoliosis

Pyramidal features

Fasciculations

Developmental delay

Ophthalmic features

Autonomic dysfunction

Creatinine kinase (CK) elevation

Cerebral white matter lesions

Neuropathic pain

Bulbar dysfunction

Cerebral atrophy

Tongue abnormalities

Proximal weakness

Ulcers

Tremor

Cramps

Contractures

Calf hypertrophy

Other features

References

1. Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008; 131:3051-3061.
2. Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
3. Amato AA, Russell JA. Neuromuscular disorders. McGraw Hill New York 2008 Chapter 9.
4. 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. 
5. Hamiel OP, Raas-Rothschild A, Upadhyaya M, et al. Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant. J Pediatr 1993; 123:431-434.
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Related checklists

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