Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most prevalent genetic conditions in the pediatric patient population. The typical clinical presentation includes distal muscle weakness and atrophy, but the severity and progression are largely variable. Improvements in supportive treatment have led to better preservation of patients’ motor functions. More than 80 genes have been associated with CMT. These genetic discoveries, along with the developments of cellular and transgenic disease models, have allowed clinicians to better understand the disease mechanisms, which should lead to more specific treatments.
Key points
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Charcot-Marie-Tooth disease (CMT) is the most prevalent genetic neuromuscular disease in children.
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Dejerine-Sottas syndrome is the infantile form of inherited neuropathy.
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CMT is divided into 2 major groups: demyelinating and axonal neuropathy.
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More than 80 CMT-causing genes have been identified with the aid of new-generation DNA sequencing.
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PMP22 duplication in CMT1A is the most frequent cause of CMT.
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Standardized evaluation tools have been developed, including a pediatric neuropathy scoring system and gait analysis (computerized motion analysis).
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Therapeutic management consists of physical and orthopedic therapies that should be tailored individually in order to maintain the quality of life of children with CMT.
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