Charcot-Marie-Tooth disease

Patients should be followed up every 1-2 years to assess for symptom progression. Evaluation should include a neurology examination (with use of the Charcot-Marie-Tooth disease Neuropathy Score [CMTNS]) or CMT Exam Score [CMTES]), possibly electrophysiology (nerve conduction studies), genetic counselling, and rehabilitative evaluation.[9]Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology. 2005 Apr 12;64(7):1209-14. http://www.ncbi.nlm.nih.gov/pubmed/15824348?tool=bestpractice.com ​​[10]Murphy SM, Herrmann DN, McDermott MP, et al. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Sep;16(3):191-8. http://onlinelibrary.wiley.com/doi/10.1111/j.1529-8027.2011.00350.x/full http://www.ncbi.nlm.nih.gov/pubmed/22003934?tool=bestpractice.com [11]Fridman V, Sillau S, Acsadi G, et al. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 Mar 3;94(9):e884-e896. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238948 http://www.ncbi.nlm.nih.gov/pubmed/32047073?tool=bestpractice.com All patients with CMT should be checked annually for evidence of diabetes mellitus, and treated for the condition promptly if it is present, as it can exacerbate the symptoms of CMT1A and possibly other forms of the condition.

Research into CMT is ongoing, and new updates and trials are common. Physicians should be aware of updates and be able to explain research or clinical trials that may be of assistance to the patient.