Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Autosomal recessive hereditary demyelinating motor and sensory neuropathy is a group of inherited peripheral nerve disorders characterized by progressive damage to the myelin sheath — the protective covering surrounding peripheral nerves. This condition falls within the broader category of Charcot-Marie-Tooth disease (CMT), specifically the demyelinating forms inherited in an autosomal recessive pattern, often referred to as CMT4 or AR-CMT demyelinating type. The disease primarily affects the peripheral nervous system, leading to progressive weakness and atrophy of the distal muscles (particularly in the feet, lower legs, hands, and forearms), sensory loss, reduced or absent deep tendon reflexes, and foot deformities such as pes cavus (high-arched feet) and hammer toes. Nerve conduction velocities are significantly reduced due to the demyelinating process. The onset is typically in childhood, and the disease tends to be more severe than autosomal dominant forms of CMT. Patients may experience difficulty walking, frequent tripping, and progressive gait abnormalities. Some subtypes may also feature scoliosis, vocal cord paresis, or cranial nerve involvement depending on the specific genetic cause. Multiple genes have been implicated in autosomal recessive demyelinating CMT, including GDAP1, MTMR2, SBF2, SH3TC2, NDRG1, EGR2, PRX, and others, each defining a specific CMT4 subtype. Diagnosis is based on clinical examination, electrophysiological studies showing reduced nerve conduction velocities consistent with demyelination, and genetic testing to identify the causative mutation. There is currently no cure for this condition. Treatment 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 interventions for skeletal deformities when necessary. Pain management and regular monitoring by a neurologist are important components of ongoing care. Genetic counseling is recommended for affected families.

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