X-linked Charcot–Marie–Tooth disease

Did You Know?

• Localized loss of sensation also takes temperature sensation, which can lead to accidental injury from heat.
• Complications are associated with the symptoms of the condition.

Signs and symptoms

Symptoms vary between subtypes but generally progress over time. They include muscle weakness and atrophy of the distal extremities, loss of sensation in the distal limbs, loss of deep tendon reflexes, high-arched feet, and less commonly scoliosis. Less frequent symptoms involve transient central nervous system dysfunctions such as dysphagia, dysarthria, ataxia, generalized body weakness, aphasia, and somnolence. Severe cases may exhibit proximal muscle weakness.

Types

X-linked Charcot–Marie–Tooth disease has six subtypes. Type 1 is childhood-onset with progressive severe distal muscle weakness, bilateral foot drop, high-arched feet, hyporeflexia or areflexia, variable sensory loss, and less commonly sensorineural deafness and central nervous system problems; it is X-linked dominant. Type 2 is infancy/childhood-onset with progressive distal muscle weakness affecting lower and upper extremities, high-arched feet, areflexia, and less commonly sensory loss and intellectual disabilities; it is X-linked recessive. Type 3 is childhood/adolescent-onset with pain and numbness, progressive distal muscle weakness spreading from lower to upper limbs, distal pain sensation loss, high-arched feet, areflexia or hyporeflexia, and reported spastic paraparesis; it is X-linked recessive. Type 4 is neonatal/early childhood-onset with gradually progressive severe distal limb weakness, sensory loss, high-arched feet, generalized areflexia, hammer toes, and reported sensorineural deafness and cognitive disabilities; it is X-linked recessive. Type 5 is infancy/childhood-onset with progressive distal limb weakness, foot drop, gait abnormalities, bilateral severe/profound congenital hearing loss, and progressive optic neuropathy; it is X-linked recessive.