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Charcot-Marie-Tooth Neuropathy Type 2A.


Züchner S.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2005 Feb 18 [updated 2013 Aug 01].



Charcot-Marie-Tooth hereditary neuropathy type 2A (CMT2A) is a classic axonal peripheral sensorimotor neuropathy characterized by earlier and more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Most affected individuals develop symptoms in the first or second decade. It has recently been suggested that CMT2A represents more than 90% of the severe dominant CMT2 cases. However, milder late-onset cases and unusual presentations have also been described.


The diagnosis is established by clinical and molecular genetic findings. MFN2 is the only gene in which mutations are known to cause CMT2A.


Treatment of manifestations: Treatment by a team including a neurologist, physiatrist, orthopedic surgeon, and physical and occupational therapists; special shoes and/or ankle/foot orthoses to correct foot drop and aid walking; surgery as needed for severe pes cavus; forearm crutches, canes, wheelchairs as needed for mobility; exercise as tolerated; acetaminophen or nonsteroidal anti-inflammatory agents for musculoskeletal pain; treatment of neuropathic pain with tricyclic antidepressants or drugs like carbamazepine or gabapentin. Surveillance: Annual neurologic evaluation of gait, strength, and visual acuity. Agents/circumstances to avoid: Obesity (which makes ambulation more difficult); medications (e.g., vincristine, isoniazid, nitrofurantoin) known to cause nerve damage; alcohol and malnutrition (which can cause or exacerbate neuropathy). Other: Career/employment counseling.


CMT2A is inherited in an autosomal dominant manner. Most individuals diagnosed with CMT2A have an affected parent. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with CMT2A has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk for CMT2A is possible if the disease-causing mutation has been identified in an affected family member.

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