Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary axonal motor and sensory neuropathy is a subtype of Charcot-Marie-Tooth disease type 2 (CMT2), a group of inherited peripheral neuropathies characterized by progressive degeneration of peripheral nerve axons rather than the myelin sheath. This condition primarily affects the peripheral nervous system, leading to progressive weakness and atrophy of distal muscles, particularly in the feet, lower legs, and hands. Sensory loss in a stocking-glove distribution is also a hallmark feature, and patients may experience reduced or absent deep tendon reflexes, foot deformities (such as pes cavus and hammer toes), and difficulties with balance and gait. The disease follows an autosomal dominant inheritance pattern, meaning that a single copy of the pathogenic variant inherited from one affected parent is sufficient to cause the condition. Multiple genetic loci have been associated with autosomal dominant CMT2, including mutations in genes such as MFN2, MPZ, NEFL, HSPB1, and others. Nerve conduction studies typically show normal or near-normal conduction velocities (above 38 m/s in the motor nerves of the upper limbs), distinguishing axonal forms from demyelinating forms of CMT. Onset is variable but often occurs in childhood, adolescence, or early adulthood, with a slowly progressive course. There is currently no cure or disease-modifying therapy for autosomal dominant hereditary axonal motor and sensory neuropathy. Management is supportive and multidisciplinary, including physical therapy to maintain muscle strength and flexibility, occupational therapy, orthotic devices (such as ankle-foot orthoses) to improve mobility, and surgical intervention for severe skeletal deformities when necessary. Pain management may be required for patients who experience neuropathic pain. Genetic counseling is recommended for affected individuals and their families.

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