CMT4C

A diagnosis of CMT4C can be both frightening and confusing. However, hope can be sown in knowledge!

What is CMT4C?

  • Symptoms

    Charcot-Marie-Tooth disease type 4C (CMT4C) primarily affects the peripheral nerves, leading to muscle weakness, loss of coordination, and reduced sensation in the limbs. Individuals with CMT4C often experience muscle atrophy, especially in the legs and feet, which can cause difficulties with walking and balance. Scoliosis, or curvature of the spine, is also a common feature, and symptoms can progress over time, affecting overall mobility and fine motor skills. The severity and onset of symptoms can vary widely, but early diagnosis and supportive care can help manage these effects and improve quality of life.

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  • Causes

    CMT4C is caused by mutations in the SH3TC2 gene, which plays a crucial role in the normal function and maintenance of Schwann cells. Schwann cells produce the myelin sheath, a protective layer around nerves that aids in efficient signal transmission. In individuals with CMT4C, mutations in SH3TC2 disrupt Schwann cell function, leading to demyelination—damage or loss of the myelin sheath—and eventual nerve degeneration. CMT4C is inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

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  • Treatments

    Currently, there is no cure for CMT4C, but treatment focuses on managing symptoms and maintaining mobility. Physical therapy and occupational therapy can help strengthen muscles, improve coordination, and preserve motor function. Orthopedic devices, like braces or custom shoes, are often used to support walking and alleviate foot deformities. In some cases, surgery may be recommended to correct severe foot deformities. Pain management, regular exercise, and support from medical professionals are also essential to improving quality of life for individuals with CMT4C.

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 FAQs

  • CMT4C stands for Charcot-Marie-Tooth disease type 4C. It is a rare genetic neuromuscular disorder that affects the peripheral nerves.

  • Symptoms may include muscle weakness and wasting, progressive loss of sensation in the limbs, foot deformities (such as high arches or hammertoes), and difficulty with balance and coordination.

  • Although there are many direct symptoms that CMT4C results in, sometimes other health issues can be provoked by the onset of CMT4C. Spinal issues such as scoliosis and kyphosis are closely related to CMT4C. Additionally, hearing loss and sclerosis are also possible outcomes as the illness progresses. It's very important to bring up any health issues you have with your neurologist to determine whether the issue is correlated to your CMT4C diagnosis or if it is caused by other variables elsewhere.

  • Diagnosis typically involves a combination of clinical examination, family history, nerve conduction studies, electromyography (EMG), genetic testing, and sometimes nerve biopsies.

  • CMT4C is caused by mutations in specific genes involved in nerve function. It is inherited in an autosomal recessive manner, meaning both parents must pass on a copy of the mutated gene for the child to develop the condition.

  • Currently, there is no cure for CMT4C. Treatment focuses on managing symptoms, providing supportive care, and maintaining mobility and quality of life. HOWEVER, Project Foresee is pursuing gene editing as a cure, led by Dr. Kleopas and his incredible discoveries with mouse models.

  • Treatment may include physical therapy, occupational therapy, orthopedic interventions (such as braces or surgery), pain management, and assistive devices (such as orthotics or mobility aids). Additionally, thanks to Dr Kleopas' invaluable work with his team in Cypress, there is hope for a treatment on the horizon. Studies using gene therapy on mouse models show incredible promise, and it is our hope and goal to push this discovery down the path to providing this for clinical trials.

  • CMT4C is one of many subtypes of Charcot-Marie-Tooth disease, each caused by mutations in different genes. CMT4C is characterized by specific genetic mutations within the gene SH3TC2.

  • The prognosis can vary depending on the severity of symptoms and individual factors. While CMT4C is progressive, some individuals may experience relatively slow progression and maintain a good quality of life with proper management

  • Yes, researchers are continually studying CMT4C to better understand its underlying mechanisms and develop potential treatments. Right now, our most well-studied researchers have determined that gene therapy using the AAV9 vector has proven to be incredibly successful in their mouse models. Project Foresee aims to push this initiative towards development as soon as possible and get this treatment into the hands of sufferers as soon as possible.

  • Visiting the CMT4C facebook support group can be a great place to get updates on upcoming events geared specifically for our cause as well as creating deeper relationships with other families and patients battling the same disease. In addition, getting connected with the CMTA’s “Patients as Partners Program” will provide you with many resources and opportunities to get involved in the wider CMT community.