According to a story published on Charcot-Marie-Tooth News, a recent real-world study highlighted the impacts and symptoms of Charcot-Marie-Tooth (CMT) disease type 1A. The most common form of the illness, symptoms recorded in the study included walking difficulty, fatigue, and weakness affecting the extremities. Many patients also reported mental health struggles as well, such as depression and anxiety.

About Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is a hereditary disorder of the peripheral nervous system. It is most characterized by a progressive loss of touch sensation and muscle tissue in several different parts of the body. The cause of this disease is usually linked to a genetic mutation, but the mutation involved varies depending on the variant of Charcot-Marie-Tooth disease. There are multiple types of Charcot-Marie-Tooth disease, with all types aside from type 2 having a demyelination effect. Type 2 causes damage to the neuronal axon instead. Symptoms include foot drop, muscle wasting (typically in the arms, legs, and hands), painful muscle spasms, loss of sensation in the limbs, scoliosis, trouble speaking, chewing, and swallowing, and tremors. Treatment typically includes therapy and surgery in order to maintain function. There is no cure. The disease can occur early in life or as late as the 30s and 40s. To learn more about Charcot-Marie-Tooth disease, click here.

About the Study

This study collected data entirely from a study titled CMT&Me; this study was sponsored by Vitaccess and commenced in 2018. It was entirely app-based and was intended to gather real-world data about people living with Charcot-Marie-Tooth and their experiences with the disorder. Data from 937 people was included in the research and was based on survey responses from 2018-2021. The mean age of the patients was 45 years and 70.8% of respondents were women.

Mean age of noticeable symptoms was 17 years and patients sought treatment an average of eight years following symptom onset. 86.5% received physical therapy as part of their treatment. Other common approaches included orthotic devices, anti-depressants, and medications for pain relief. Overall, the participants rated weakness in the hands/fingers as their most impactful symptom. Other symptoms commonly cited as very impactful were walking issues, difficulty with balance, fatigue, and weakness of the legs and feet.

The most common comorbidities reported in the study were mental health disorders, such as depression (37.9%) and anxiety (39.3%). These rates were higher than the general population and were comparable to other neurological illnesses such as multiple sclerosis.

The results of this study were more or less in alignment with earlier natural history studies of Charcot-Marie-Tooth disease type 1A and highlighted that there is still a major unmet need among this population of patients in terms of disease-altering treatments and effective treatment of debilitating symptoms.

Check out the original study here.