According to a story from Charcot-Marie-Tooth News, a recent study has managed to identify new clinical evaluations that will allow doctors to more effectively monitor the condition of patients with Charcot-Marie-Tooth disease type 1A. The authors aimed to find ways to improve monitoring and clinical evaluation for both patient progress or deterioration.
About Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease (CMT) is a type of disorder that affects the peripheral nervous system. It is characterized by muscle wasting and the loss of touch sensation in various areas of the body. It is caused by mutations of the MFN2 gene amongst others, which can cause alterations to the function of either the axon or the myelin sheath. Symptoms of CMT include hammer toe, foot drop, loss high foot arch, loss of leg muscle mass, weakness in the hands and forearms, painful muscle spasms, loss of sensation in the arms and legs, tremors, difficulty speaking and swallowing, digestive problems, and scoliosis. The severity of symptoms is highly variable. Treatment primarly focuses on slowing disease progression and maintaining muscle function and movement. For most CMT patients, life expectancy is not affected. In order to learn more about CMT, click here.
New Measurements and Evaluations
CMT has a variety of subtypes, and type 1A is the most common form. It causes severe destruction of the myelin sheath. In the past, most studies of CMT1A and other types have used a measure called the Charcot-Marie-Tooth neuropathy score in order to evaluate patients. However, this latest study is just one of several that has proposed the possibility of alternative mechanisms to assess disease severity and monitor changes.
TreSPE Protocol
This study was integrated into a larger scale trial which was testing a rehabilitation tool called TreSPE. This program includes activity such as breathing exercises, treadmill training, and stretches in order to maintain muscle strength and function.
About The Study
The study compared the standard CMT neuropathy score alongside several other measurements, including the walking impact scale, the 6 minute walk test, the Berg balance scale, a 10 meter walk test, and the short physical performance battery.
While most of the measures had some utility, the researchers found that the 6 minute walk test, the 10 meter walk test, and the short physical performance battery were the most useful scores alongside the already standard CMT neuropathy score.
Check out the original study here.
