GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2C

Disease characteristics

Excerpted from the GeneReview: Charcot-Marie-Tooth Neuropathy Type 2
Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.

Associated genes

  • Also known as: CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC, TRPV4
    Summary: transient receptor potential cation channel, subfamily V, member 4

Clinical features

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  • Urinary urgency
  • Hyporeflexia
  • Areflexia
  • Hand muscle atrophy
  • Intercostal muscle weakness
  • Short stature
  • Distal muscle weakness
  • Distal sensory impairment
  • Vocal cord paresis
  • Diaphragmatic weakness
  • Shoulder girdle muscle atrophy
  • Urinary incontinence
  • Sensorineural hearing impairment
  • Pes cavus
  • Hammertoe
  • Scoliosis
  • Obstructive sleep apnea
  • Respiratory failure
  • Decreased distal sensory nerve action potential
  • Foot dorsiflexor weakness
  • Stridor
  • Down-sloping shoulders
  • Abducens palsy
  • Oculomotor nerve palsy
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