Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review.

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: CMT type 1 (CMT1; demyelinating form) and CMT type 2 (CMT2; axonal form). The objectives of this study were to systematically review and assess the quality of studies reporting the incidence and/or prevalence of CMT worldwide. SUMMARY: A total of 802 studies were initially identified, with only 12 meeting the inclusion criteria. CMT prevalence was reported in 10 studies and ranged from 9.7/100,000 in Serbia to 82.3/100,000 in Norway. The frequency of the main subtypes varied from 37.6 to 84% for CMT1 and from 12 to 35.9% for CMT2; the country with the lowest prevalence of CMT1 was Norway, and the country with the highest prevalence of CMT1 was Iceland; on the other hand, CMT2 was least prevalent in the United Kingdom and most prevalent in Norway. KEY MESSAGES: This review reveals the gaps that still exist in the epidemiological knowledge of CMT around the world. Published studies are of varying quality and utilise different methodologies, thus precluding a robust conclusion. Additional research focusing on epidemiological features of CMT in different nations and different ethnic groups is needed.

Quality of life and functional independence in amyotrophic lateral sclerosis: A systematic review.

Amyotrophic Lateral Sclerosis (ALS) leads to functional capacity decline, generating great impact in quality of life. Quality of life is directly related to physical integrity and functional independence. This systematic review aimed to analyze treatment protocols and their outcomes from clinical trials with focus on ALS rehabilitation that evaluated the effects on quality of life and functional independence from their intervention process. A literature search was conducted through MEDLINE-PubMed, Science Direct, Web of Science and Scopus databases. A total of 3630 articles were identified. Eleven studies met the inclusion criteria. They focused on different aspects of quality of life or functional independence, which are: respiratory care, mental health, communication skills and exercises. Use of bipap and inspiratory muscle training, anxiety and depression, communication devices implementation and exercises safety and tolerability were considered as key points. However, the drastic evolution of the disease is a limiting factor to the perception of quality of life improvement by patients. Further studies should be done to validate the benefits on patients' quality of life.

Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease.

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is part of a group of genetically determined neuropathies. The intrinsic muscles of the feet and legs are affected early in the disease, impacting balance and mobility. RESEARCH QUESTION: The purpose of this study was to evaluate individuals with type 2 Charcot-Marie-Tooth disease to understand how motor changes interfere in balance and function. METHODS: The sample comprised 15 individuals with CMT2 from the same family (CMT2G) and a control group (CG) of healthy individuals matched for age and gender. The CMT individuals were classified using the Charcot-Marie-Tooth Neuropathy Score (CMTNS). Muscle strength of the ankle was assessed using a manual dynamometer. Balance was measured using a stabilometer and Berg's Balance Scale (BBS). Functional performance was measured by the Timed Up and Go Test (TUG). RESULTS: There was a statistically significant difference between the CMT2G and the CG for right side (RS) and left side (LS) muscle strength (dorsiflexors-RS and LS: p < 0,0001; invertors-RS and LS: p < 0.0001; plantarflexors-RS: p < 0.0001; plantarflexors-LS: p = 0.0019; evertors-RS: p = 0.0016; evertors-LS: p<0.0001) in the parameters for the velocity and displacement of center of pressure (CoP) anterior-posterior (AP) in the stabilometry tests with eyes open (EO) and closed (EC) (VCoPAP-EO and VCoPAP-EC: p = 0.0123; DCoPAP-OE: p = 0.0183 and DCoPAP-EC: p = 0.0129), the Berg Balance Scale (p = 0.0066) and the TUG test (p = 0.0003). SIGNIFICANCE: Thus when the severity of the disease is mild the instability is caused by the weakness of the dorsiflexors and plantarflexors. In patients considered moderate/severe, in addition to weakness of the leg muscles, loss of proprioception will contribute to impaired balance.