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Charcot-Marie-Tooth and Other Inherited Neuropathies

Reviewed 06/2018
 


BASICS

DESCRIPTION

  • Charcot-Marie-Tooth (CMT) and hereditary neuropathies are genetically heterogeneous disorders primarily affecting peripheral nerves in a length-dependent pattern with symmetrical mot...

DIAGNOSIS

  • Classic presentation: motor greater than sensory polyneuropathy

  • Family history

  • Nerve conduction studies (NCS)/electromyography (EMG)

  • Accurate genetic diagnosis may be difficult due to the genet...

TREATMENT

  • No current treatments significantly alter the clinical course of patients with CMT.

  • An important goal is to maintain mobility, flexibility, and muscular strength.

  • Treatment is supportive and m...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Daily low-impact exercise. The goal is muscle strength training, muscle and ligament stretching, stamina training, and moderate aerobic exercise. 

PATIENT EDUCATION

REFERENCES

1
Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the Human Genome Project success. Genes (Basel).  2014;5(1):13–32. {L-End} [V...

CODES

ICD10

  • G60.0 Hereditary motor and sensory neuropathy

  • G60.8 Other hereditary and idiopathic neuropathies

  • G60.9 Hereditary and idiopathic neuropathy, unspecified

  • G54.5 Neuralgic amyotrophy

ICD9

  • 356.1 Per...

CLINICAL PEARLS

  • CMT presents in youth, adolescence, or early adult and with progressive distal muscle weakness and wasting, foot deformities, and areflexia.

  • If family history is lacking, rule out treat...

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