New Measure Developed to Assess the Severity of Charcot-Marie-Tooth Disease in Babies

According to a story from Charcot-Marie-Tooth News, a group of scientists have developed a new scale that can be used to predict disease severity in infants that are diagnosed with Charcot-Marie-Tooth disease. Called the Charcot-Marie-Tooth disease Infant Scale, it is capable of accurately evaluating possible outcomes in early onset disease.

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 duplication of a certain region of chromosome 17 that affects the PMP22 gene. There are multiple types of Charcot-Marie-Tooth disease, with all types aside from type 2 having a demyelinization 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, 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 Charcot-Marie-Tooth Disease Infant Scale

A study which describes the scale was recently published in the scientific journal BRAIN. There are multiple types of Charcot-Marie-Tooth disease, and some types begin to cause symptoms very early in life. The scale allows for doctors to rapidly gauge the potential severity of the case as well as the type of Charcot-Marie-Tooth disease that is present. Early intervention can be vital in producing the best outcomes for these patients and controlling disease progression. 

The Charcot-Marie-Tooth disease Infant Scale is the first predictive tool for this disease that is specifically tailored to patients with early presenting forms of the disease that are less than three years old. The effectiveness of the tool was confirmed in a scientific study that involved a total of 128 children in this age range, including 26 patients, 95 controls, and seven children who were deemed at risk for the illness.

To learn more about this study, check out the original publication here.


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