Charcot-Marie-Tooth Disease

The board-certified and fellowship-trained neurologists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, are the leading providers of care for children with neuromuscular disorders, including Charcot-Marie-Tooth (CMT) disease, in Louisville, Kentucky, and Southern Indiana.

Norton Children’s Hospital is the pediatric teaching hospital for the University of Louisville School of Medicine. Our physicians are training the next generation of pediatric specialists.

We’ll determine the severity of your child’s CMT and create a treatment plan that minimizes risk, so your child can get back to being a kid.

Our multidisciplinary approach, in partnership with the Muscular Dystrophy Association (MDA), sees patients in a single clinic for multiple specialties, including neurology, pulmonology, orthopedics, physical therapy, occupational therapy and speech therapy.

What Is Charcot-Marie-Tooth Disease?

CMT is a genetic disorder that affects nerves in the arms and legs. Symptoms can include weakness, muscle atrophy (shrinking), numbness in the hands and feet, foot deformities (high arches) and scoliosis. There are many forms of CMT. Symptoms can start at birth or occur through adulthood. Progression typically is slow. Symptom severity may be mild to severe.

Charcot-Marie-Tooth Diagnosis

Our team may order a complete neurological exam that can show muscle weakness, muscle atrophy (shrinking), numbness, decreased reflexes and foot deformities. If we suspect CMT, we may order electromyography with nerve conduction studies (EMG/NCS). This test helps study how well signals are being carried by the nerves in the arms and legs. We also may order genetic tests (blood tests) to confirm the diagnosis.

Charcot-Marie-Tooth Treatment

No treatments currently are available to slow or stop the progression of CMT. Physical therapy is important to help maintain strength and full range of motion of the joints. Sometimes nerve pain is part of the disease. Our team members may prescribe medications to help treat this.

Why Norton Children’s Neuroscience Institute?

  • The Norton Children’s Hospital Comprehensive Epilepsy Center is a Level 4 epilepsy center, the highest rating available from the National Association of Epilepsy Centers. Norton Children’s Hospital has held this designation since 2013.
  • We are the first in Kentucky and among the first in the nation to use neurostimulation in a pediatric patient.
  • Regional neurology care is available for children across Kentucky and Southern Indiana. We travel to clinics in Bowling Green, Campbellsville, Corbin, Elizabethtown, Frankfort, Owensboro and Paducah, Kentucky; and Evansville, Indiana. We also perform a number of telemedicine visits each week.
  • The specialists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, use state-of-the-art technology to treat epilepsy, uncontrollable seizures and deep brain tumors in children who, in the past, would not be candidates for surgery, including:
    • Visualase: Technology that allows neurosurgeons to perform MRI-guided laser ablation surgery. Fewer than two dozen pediatric hospitals in the U.S. offer this technology.
    • Surgical Theater: Virtual reality technology that creates an immersive 3D view of a patient’s brain, allowing neurosurgeons, the patient and family to see inside the skull and brain to get a greater understanding of the condition and impact of potential procedures. Norton Children’s Hospital is the first hospital in the region to use this technology.
  • We offer dedicated multidisciplinary clinics for brain tumors, traumatic brain injuries, spina bifida, craniofacial injuries and disorders, epilepsy, muscular dystrophy, spasticity, headache/migraine, autism and neurocutaneous disorders.
  • Our multidisciplinary craniofacial program was the first established in the Midwest.
  • We offer a neurogenetics clinic to evaluate and treat children with neurogenetic syndromes.
  • We have a neuropsychology program that specializes in the evaluation of children and teens with a variety of neurological, neurodevelopmental and medical conditions, including brain tumors and epilepsy.
  • Outpatient neurology facilities in downtown Louisville are equipped with in-office electroencephalography (EEG) capabilities and laboratory services in the same building, creating a streamlined, family-centered environment.
  • We offer the region’s first clinic to treat children with immune-mediated neurological disorders.

Debbie Gilbert, family advocate
Brittany Hornickel, nurse coordinator
Teresa Javier, Speech therapist
Lynn Lukins, physical therapist
Hannah Ragan, occupational therapist
Leah Todd, social worker
Jessica Waits, Muscular Dystrophy Association clinic coordinator

Neuroscience

Norton Children’s Neuroscience Institute

Connect with the Norton Children’s neurology team
(502) 588-3650

Connect with the Norton Children’s neurosurgery team
(502) 583-1697

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