Recently in Charcot‐Marie‐Tooth news, progress has been made in identifying better testing to use as outcome measures for people living with Charcot-Marie-Tooth disease type 1A. A study called “Outcome measures in the clinical evaluation of ambulatory Charcot Marie Tooth 1A subjects” was released in a publication from the European Journal of Physical and Rehabilitation Medicine. These measures evaluated in the trials help doctors trace a patient’s experience as they progress or regress through treatment.
What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) can manifest in various ways, however each type of CMT is caused by similar mutations in genes critical to the function of peripheral nerves, which control major motor coordination and sensation. The effect of these mutations manifest in symptoms inlcuding lowered sensitivity to sensations in the outer extremities and general weakening of muscles. To learn more about CMT, click here.
People living with CMT often experience tight joints, weakened musculature in the legs and deformities in the feet. Any combination of these symptoms can limit mobility and make walking extremely difficult. There is no established treatment for any of the CMT subtypes, although orthophedic devices, physical therapy, and surgery may mitigate symptoms. The subtype Charcot-Marie-Tooth type 1A, however, is the most widespread type of CMT, and therefore the most studied. Hopefully these studies will incrementally contribute to our understanding of the grand scope of the disease.
Standards of wellness
This recent study on outcome measures is beneficial to the health of those with CMT because there is a considerable lack of established standards of wellness that can be used to measure a patient’s outcomes.
Previously the Charcot‐Marie‐Tooth neuropathy score (CMTNS) has been used in studies to gauge results. This method calculates data collected from the neurophysiological tests of a patient, along with their symptoms.
Recently new schools of thought question if the CMTNS score takes enough patient information into consideration. New studies evaluating the simple physicality of a patient have been gaining a growing amount of attention. This new take has been proving relevance in helping to assess and assist a patient in their treatment, and helping the medical community understand the disease.
As part of a clinical trial assessing the security and effectiveness of a potential new rehabilitation protocol called TreSPE, the study observed patients as they stretched and walked on a treadmill. The patients underwent respiratory exercises and tests that observed the range of their sensory sensitivities. These exercises have so far proven to be beneficial, with patients exhibiting greater strength and balance as an outcome. It should be noted that these physical tests were evaluated in combination with results from the CMTNS scores along with the patients’ quality of life.
