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, a cure is just at our fingertips, perhaps as soon as 2026!

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. You can find out more about donating to this cause here.

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. More information about each type of CMT can be discovered here.

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. Learn more by going to the Gala event.

The best place to find information in order to stay connected is by visiting cmtausa.org and getting connected with their Patients as Partners Program! This will provide you with many resources and opportunities to get involved in the wider CMT community. Additionally, 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.