Charcot-Marie-Tooth

Charcot-Marie-Tooth 2018-01-30T16:37:11+08:00
  • Heterogeneous group of disorders causing demyelination of peripheral nerves
  • Most common mode of inheritance is autosomal dominant

Relevant physical signs

  • Inspection
    • Guttering of dorsal interossei (UL and LL)
    • Claw hands (advanced cases, hyperextension of MCPJs with fixed flexion of IPJs)
    • Inverted champagne bottle appearance (distal wasting, most often affecting the anterolateral compartment of the leg. Classically stops at distal third of thigh)
    • Pes cavus (increased height and curvature of medial longitudinal arch, with medially angulated heel. High arch does not flatten with weight-bearing)
    • Fasciculations, especially of distal muscles
    • Foot drop (usually bilateral)
    • Walking aids
  • Tone usually flaccid
  • Reflexes typically absent of greatly diminished
    • Confirm absent reflexes by Jendrassik manoeuvre
  • Power
    • Symmetrically affected
    • Distal weakness usually predominates
    • Plantarflexion relatively spared compared to dorsiflexion
    • Proximal weakness typically only in severe cases
  • Coordination normal, unless impaired by weakness
  • Sensation
    • May be spared until later on in disease
    • Sensory loss to pinprick and proprioception in a length-dependent manner (glove and stocking)
    • Demonstrate length-dependent loss by running sharp object up the limb
  • Gait: high steppage, may have sensory ataxia
  • Positive Rhomberg’s sign as disease progresses

 Differential diagnosis

  • Diabetic neuropathy
  • Hereditary neuropathy with pressure palsy
  • Drugs
    • Isoniazid
    • Zidovudine
    • Vincristine
    • Amiodarone
    • Metronidazole
    • Dapsone
  • Toxins
    • Lead (predominantly motor)
    • Alcohol
  • Metabolic
    • B12 deficiency (usually associated with UMN signs as well)
    • Porphyria (predominantly motor)
  • Inflammatory
    • Guillain-Barre syndrome
    • Acute inflammatory demyelinating polyneuropathy
    • Chronic inflammatory demyelinating polyneuropathy
    • Sarcoidosis
    • Vasculitis causing mononeuritis multiplex (typically asymmetrical)
      • Churg-Strauss syndrome
      • Polyarteritis nodosa
      • Wegner’s granulomatosis
      • Sjögren’s syndrome
      • Systemic lupus erythematosus
    • Amyloidosis
  • Infections
    • Human immunodeficiency virus
    • Lyme disease
    • Leprosy
  • Neoplastic
    • Paraneoplastic phenomenon

Investigations

  • Nerve conduction studies to look for slowing of conduction velocities
  • Consider genetic testing
  • Fasting plasma glucose, HbA1c, B12, folate levels
  • Detailed drug history
  • Consider HIV testing, Borrelia serology
  • Consider nerve biopsy in amyloidosis, leprosy, vasculitis, and CIDP

Management

  • Multidisciplinary team approach
  • Patient education
  • Physiotherapy and occupational therapy to preserve and maximize function
  • Analgesia for pain
  • Orthotics / walking aids as necessary

Charcot-Marie-Tooth

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