Charcot-Marie-Tooth Disease, axonal, type 2GG

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare inherited nerve disorder. It affects both motor and sensory nerves, leading to signs of nerve damage that include changes in nerve conduction and structural changes seen in nerve biopsies. People with this condition often experience progressive muscle weakness and atrophy in the hands and feet, along with sensory loss and abnormalities in deep tendon reflexes. The condition typically starts in the first to second decade of life, with a steady decline in nerve function until the fourth decade, followed by a period of more severe progression that eventually stabilizes.

The common signs include progressive muscle weakness and atrophy of the distal extremities, reduced or absent deep tendon reflexes, sensory loss in the limbs, and foot deformities.

This condition is caused by genetic factors and is inherited in an autosomal dominant pattern. Changes in the GBF1 gene are associated with the disease, contributing to the nerve degeneration and abnormalities in nerve conduction.

Information about treatment is currently limited for this condition.

The condition usually starts in early life with gradual progression. People with this disease may experience steady worsening until the fourth decade, followed by a period of severe progression that then stabilizes. Quality of life and symptoms vary between individuals.

Information about current research for this condition is limited at this time.