Charcot-Marie-Tooth Disease

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is the most common hereditary neuropathy. It is slightly more common in females than males and usually autosomal dominant in inheritance. This means that a copy of the mutated gene may be inherited from either a single parent or from both parents.

How common is Charcot-Marie-Tooth disease?

CMT is the most common hereditary neuropathy and affects approximately 10 to 82 of 100,000 individuals. It is slightly more common in females (about one in 1,130) than in males (one in 1,313).

What are the symptoms of Charcot-Marie-Tooth disease?

The symptoms of CMT disease usually start in the first or second decade of life and often include weakness in the muscles of the feet, leading to frequent ankle sprains and clumsiness with everyday activities. The feet can develop high arches and claw toes. Patients may also develop hip dysplasia and scoliosis. Additionally, Charcot-Marie-Tooth disease may cause cardiovascular anomalies.

What is the progression of Charcot-Marie-Tooth disease?

There are various subtypes of Charcot-Marie-Tooth disease. The rarer autosomal recessive forms of CMT (where the mutation is inherited from both parents) often have an earlier presentation and worse prognosis than the more common autosomal dominant form. The more common form usually manifests in the first or second decade of life.

What causes Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease is an inherited condition that causes demyelination of peripheral nerves. Myelin is a lining in the nerves that facilitates the transmission of signals. When it is damaged, this leads to irregularities in nerve conduction and sensation which, in turn, manifest as weakness and diminished sensation (numbness) in the arms and/or legs.

How is Charcot-Marie-Tooth disease diagnosed?

Charcot-Marie-Tooth disease is diagnosed through a combination of a detailed family history, physical examination, nerve studies, and genetic testing. Rarely, a nerve biopsy is needed to confirm the diagnosis.

How is Charcot-Marie-Tooth disease treated?

Charcot-Marie-Tooth disease is initially treated with physical therapy, daily stretching, and braces. These primary treatments help with maintenance of balance and stability with ambulation. Currently, clinical trials are being conducted for medical and gene therapies. Surgery is performed to correct deformities and rebalance muscles to optimize mobility and gait efficiency.

What types of specialists treat Charcot-Marie-Tooth disease?

Orthopedic surgeons, geneticists, neurologists, physiatrists, physical therapists, and orthotists treat patients with Charcot-Marie-Tooth disease.

How does HSS manage Charcot-Marie-Tooth disease?

At Hospital for Special Surgery, the pediatric orthopedic surgeons work closely with physiatrists, physical therapists, and orthotists to ensure our patients with CMT disease have optimal, pain free function and mobility.

What is the surgery for Charcot-Marie-Tooth disease?

The goal of surgery for Charcot-Marie-Tooth disease is to help preserve or improve movement and function as the condition progresses. The most common locations for procedures in CMT are at the foot and ankle. Other areas that may benefit from surgery include the hip (to prevent dislocation), the knee (to avoid kneecap dislocation), and the spine to correct and stabilize scoliosis.

Surgery to address foot and ankle weakness and the potentially painful cavus foot (high arch) requires a multi-step foot-and-ankle reconstruction surgery that includes soft tissue releases and tendon transfers to remove contractures and rebalance muscle forces. Osteotomies or joint fusions are often needed to realign bones to improve foot position to reduce pain and enhance gait efficiency (help the patient walk more naturally and with less effort or strain on the foot). For hip dysplasia, the bones of the femur and pelvis may be repositioned to improve way the hip joint fits together, helping to restore its anatomy and function. For scoliosis, bracing is often ineffective to halt progression of spinal deformity, therefore, spinal fusion is usually the primary treatment option.

What is the life expectancy in someone with Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease is not life-threatening and does not impact life expectancy.

Posted: 12/17/2024

Reviewed and updated by John S. Blanco, MD; Emily R. Dodwell, MD, MPH, FRCSC;
Shevaun Mackie Doyle, MD; Daniel W. Green, MD, MS, FAAP, FACS; and David M. Scher, MD