Background: Children with CMT benefit from a comprehensive, multi-disciplinary approach to optimize care including medical management, monitoring of CMT-related complications, and to recommend evidenced-based interventions. Children with CMT are frequently provided care in the general neuromuscular (NM) clinic without CMT-specific outcome measures and specialists such as orthopedics to meet their needs.
Objectives: In January 2020, our team created a CMT-specific multi-disciplinary clinic with a primary goal to meet the unique needs of this pediatric population. Prior to this time, children with CMT were seen in the general NM clinic at our institution. A secondary goal of this new clinic was to prepare the team and patients for clinical trials and/or disease modifying treatments as they become available. Use of targeted outcome measures, including the CMTPeds was initiated. Our CMT Clinic team includes neurology, rehabilitation medicine, nursing, orthotist, physical therapy, and genetic counseling. Additionally, orthopedic surgery and occupational therapy were added to this clinic as they were deemed critical to the care of children with CMT and not included in the general NM clinic.
Results: Sixty-eight patients with CMT are followed in our monthly CMT clinic. Patients range in age from 4-19 years. CMT1A is the most common diagnosis with 51% (35) of the children having this genetic diagnosis. The next most common diagnoses include CMT2A 9% (6), CMT1X 4% (3), CMT4C 4% (3), 4J 4% (3), and HNPP 1% (2). All children in the CMT clinic were seen by the team including orthopedics and occupational therapy. If indicated, screening x-rays of the hips and spine were completed on the day of the clinic. Physical and occupational therapists administer the CMTPeds annually. Seventeen additional patients with genetically confirmed CMT are not seen in the CMT clinic with some seen in regional clinics and others in the general NM clinic related in part to family preference.
Conclusions: A pediatric CMT-specific clinic is feasible and provides comprehensive care specific to the needs of a child with CMT. The addition of orthopedic surgery, occupational therapy, and administration of the CMTPeds assures the highest level of clinical care. Additionally, patients and the team are poised to participate in clinical trials and administer novel treatments that become FDA approved.