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Distinguishing amongst Charcot-Marie-Tooth disease types

Distinguishing amongst Charcot-Marie-Tooth disease types
  CMT1 CMT2 CMTX CMT3* CMT4
Characteristic nerve pathology Demyelinating Axonal Demyelinating and axonal Demyelinating Demyelinating
Typical mode of inheritance AD AD X-linked AD > AR AR
Frequency amongst CMT types 50% 15 to 30% 10 to 15% Uncommon <10%
Typical age of symptom onset First or second decade Second or third decade (sometimes later) First or second decade Infancy First decade
Characteristic features
  • Motor > sensory predominating symptoms
  • Distal weakness/atrophy
  • May have enlarged and/or palpable nerves
  • Motor and sensory symptoms
  • Distal weakness with preserved proximal strength
  • Earlier onset and more severe features in males than females
  • Gait impairment
  • Hypotonia
  • Feeding difficulties
  • Severe sensory and motor symptoms
  • Severe, progressive sensory and motor symptoms
Other common features Gait ataxia/tremor (CMT1a)  

Intellectual disability (CMTX2, CMTX4)

Deafness and optic neuropathy (CMTX5)		 Delayed motor development Cranial neuropathies (CMT4B1, CMT4D)
Conduction velocities on nerve conduction studies Moderate slowing (>15 to ≤35 m/s) Normal or slight slowing (>40 m/s) Mild slowing (>35 to ≤45 m/s) Severe slowing (≤15 m/s) or absent Moderate slowing (>15 to ≤35 m/s)
CMT disease is a heterogeneous group of hereditary motor and sensory neuropathies designated by numbered categories according to characteristic genetic, clinical, and neurodiagnostic features. Each CMT category is also subdivided into several subtypes, each associated with specific pathologic genetic variants. The characteristic pattern of features may help to identify a CMT category; however, individual features may vary within specific subtypes and across individuals. Refer to UpToDate content for additional details.

AD: autosomal dominant; AR: autosomal recessive; CMT: Charcot-Marie-Tooth.

* Includes Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy.

¶ Nerve conduction velocity slowing in patients with neuropathies varies by type and severity of neuropathy as well as physiologic factors such as specific nerve tested, ambient temperature and patient age, height, sex, and body habitus. Refer to UpToDate content on nerve conduction studies for additional information.
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