Charcot Marie Tooth disease (CMT): differentiating features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Charcot Marie Tooth disease (CMT): differentiating features. CMT1E, CMT1F, CMT2A, CMT2J, CMT2N, CMT3, CMT4C, CMT4D. Fully referenced neurology checklist.

Deafness

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

Vocal cord involvement

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Phrenic nerve/respiratory involvement

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Scoliosis

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Pyramidal features

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Fasciculations

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Developmental delay

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Ophthalmic features

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Autonomic dysfunction

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Creatinine kinase (CK) elevation

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Cerebral white matter lesions

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Neuropathic pain

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Bulbar dysfunction

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Cerebral atrophy

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Tongue abnormalities

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Proximal weakness

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Ulcers

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Tremor

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Cramps

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Contractures

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Calf hypertrophy

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Other features

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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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