Self-Assessment: Management of CMT Disease in Children & Adolescents | Pediatric EMG Pearls-Session recording- Management of CMT Disease in Children & Adolescents

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Video Summary

This symposium on pediatric Charcot-Marie-Tooth (CMT) disease explores multidisciplinary management strategies, genetic counseling, surgical and non-surgical treatments, and supportive care tailored to children’s unique needs. Dr. Michelle Yang emphasizes that pediatric CMT differs from adults, as children’s symptoms often manifest through developmental delays, clumsiness, or coordination issues, typically noticed by parents. Early intervention is crucial since therapeutic opportunities are best when symptoms are minimal. Current adult clinical trials have been inconclusive partly due to irreversible nerve damage at later stages; thus, pediatric-focused natural history studies and outcome measures like the CMTP score are vital for developing effective therapies.<br /><br />Dr. Diana discusses the genetics of CMT, reviewing subtypes (e.g., CMT1 dominantly inherited demyelinating, CMT2 axonal forms, and rare recessive types) and the importance of precise genetic diagnosis for prognosis, treatment eligibility, and family counseling. Genetic testing strategies prioritize common mutations like PMP22 duplications and use electrophysiological data to guide panels. Genetic variant interpretation, family testing, and counseling for minors involve nuanced considerations. Gene-targeted therapies in development highlight the need for accurate genotyping.<br /><br />Dr. Susan Apkon addresses non-surgical and surgical management of musculoskeletal complications in pediatric CMT, focusing on foot deformities (e.g., cavovarus foot), hip dysplasia, scoliosis, and hand function. Progressive resistance exercise benefits ankle strength; orthoses aid gait but require tailored prescription, and surgery is considered when conservative treatments fail. Multidisciplinary care, including orthopedics, PT/OT, and rehab, optimizes outcomes.<br /><br />Dr. Jaclyn O'Murran discusses school, physical activity, and mental health support. Children with CMT face lower physical activity levels, quality of life challenges, and risk of depression. Educational accommodations (IEP/504 plans) and promoting adapted sports or preferred activities enhance participation and well-being. Mental health resources, vocational rehab, and transition planning are essential to support these children holistically. The symposium underscores collaborative, personalized care to improve pediatric CMT patients’ function, education, and quality of life.

Keywords

pediatric Charcot-Marie-Tooth disease

multidisciplinary management

genetic counseling

surgical treatments

non-surgical treatments

supportive care

developmental delays

genetic subtypes of CMT

genetic testing strategies

musculoskeletal complications

physical activity and mental health support

educational accommodations