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Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. CMT4B2 can also cause glaucoma (damage to the eye’s optic nerve). There is currently no cure for CMT4B2, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. CMT4B2 is inherited in an autosomal recessive fashion. It is caused by mutations in the SBF1 gene.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Anemia of inadequate production|
|Decreased motor nerve conduction velocity|
|Foot dorsiflexor weakness|
|Color vision defect|
|Segmental peripheral demyelination/remyelination|
|Telangiectasia of extensor surfaces|
|Autosomal recessive inheritance|
|Decreased number of peripheral myelinated nerve fibers|
|Distal muscle weakness|
|Distal sensory impairment|
|Onion bulb formation|
|Sensorineural hearing impairment|
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