Iandra Maria Pinheiro de França Costa

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.

Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2

The aim of this study was to evaluate the pulmonary condition in a large family with Charcot-Marie-Tooth disease type 2 (CMT2). Eighteen participants diagnosed with CMT2 and 20 healthy individuals were evaluated by spirometry and maximal expiratory and maximal inspiratory pressures (MEP and MIP, respectively). Clinical disability was measured with CMT neuropathy score (CMTNS; range 0-36). One control group (CG) comprising 20 individuals, matched for age, sex and body mass index, were used for comparison. Eight patients were female (44.5%) and 10 patients were male (55.5%); mean age was 31.8 years (range 11-79) and CMTNS range was 6-26. Differences between CMT2 and CG in the spirometry and respiratory muscle strength were statistically significant for all dimensions. There were significant correlations between CMTNS and MIP (Pearson = -0.581) and MEP (Pearson = -0.5090). The results of this study show that patients with CMT, in spite of not showing clinical signs of advanced respiratory impairment, may present subclinical respiratory changes. The respiratory comprise in the CMT disease can be silent and insidious without presenting characteristic clinical signals.

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 Bergs 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.

Contents Vol. 74, 2015

Basel • Freiburg • Paris • London • New York • Chennai • New Delhi • Bangkok • Beijing • Shanghai • Tokyo • Kuala Lumpur • Singapore • Sydney Founded 1897 as ‘Monatsschrift für Psychiatrie und Neurologie’, continued 1957–1967 as ‘Psychiatria et Neurologia’ Founders: C. Wernicke and Th. Ziehen. Successors: K. Bonhoeffer (1912–1938), J. Klaesi (1939–1967), E. Grünthal (1953–1967), H.E. Kaeser (1968–1993)