Thursday, December 4, 2014

CHARCOT-MARIE-TOOTH DISEASE

CHARCOT-MARIE-TOOTH DISEASE 









DEFINITION
Charcot-Marie-Tooth disease is a heterogeneous group of noninflammatory inherited peripheral neuropathies. It is the most common inherited neuromuscular disorder.

PHYSICAL FINDINGS AND CLINICAL PRESENTATION

● Variable presentation from family to family, but affected individuals in a family tend to have similar symptomatology
● Usually, gradual onset, with slowly progressive disorder
● Foot deformity producing a high arch (cavus) and hammertoes
● Atrophy of the lower legs (see Fig.) producing a storklike appearance (muscle wasting does not involve the upper legs
● Nerve enlargement (see Fig.)
● Sensory loss or other neurologic signs, although the sensory involvement is usually mild
● Scoliosis
● Decreased proprioception that often interferes with balance and gait
● Painful paresthesias
● In late cases, possible involvement of hands (see Fig.)
● Absence of deep tendon refl exes (DTRs) in many cases
● Poorly healing foot ulcers in some patients


CAUSE
● Chronic segmental demyelination of peripheral nerves, with hypertrophic changes caused by remyelination

DIFFERENTIAL DIAGNOSIS
● Other inherited neuropathies
● Toxic, metabolic, and nutritional polyneuropathies


WORKUP
● The early onset, slow progression, and familial nature of the disorder are usually suffi cient to establish diagnosis.
● Electrophysiologic studies are often diagnostic and may also be helpful in defi ning various subtypes of this group of neuropathies.
● Occasionally, muscle and nerve (sural) biopsy may be required

TREATMENT
● Genetic counseling
● Supportive physical therapy and occupational therapy
● Prevention of injury to limbs with diminished sensibility
● Bracing
● Occasionally, surgery to add stability and restore a plantigrade foot

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