Autosomal dominant Charcot-Marie-Tooth disease type 2G

Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a rare inherited peripheral neuropathy belonging to the axonal form of Charcot-Marie-Tooth disease. CMT2G primarily affects the peripheral nervous system, leading to progressive degeneration of peripheral nerve axons. This condition has been mapped to chromosome 12q12-q13.3 and is characterized by distal muscle weakness and atrophy, predominantly affecting the lower limbs, along with sensory impairment. Patients typically experience difficulty with walking, foot deformities (such as pes cavus and hammer toes), and reduced or absent deep tendon reflexes. Nerve conduction studies generally show normal or near-normal conduction velocities, consistent with an axonal rather than demyelinating neuropathy. The disease was initially described in a large Korean family with autosomal dominant inheritance. Onset is typically in adulthood, though age of onset can vary among affected individuals. Symptoms tend to progress slowly over time, with gradual worsening of motor and sensory deficits in the extremities. Upper limb involvement may occur later in the disease course. There is currently no cure or disease-modifying treatment for CMT2G. Management is supportive and symptomatic, including physical therapy to maintain muscle strength and mobility, occupational therapy, orthotic devices (such as ankle-foot orthoses) to assist with gait, and pain management when needed. Surgical intervention may be considered for significant foot deformities. Regular follow-up with a neurologist and a multidisciplinary care team is recommended to monitor disease progression and optimize quality of life.

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