title: Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2.
abstract: 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.
authors.affiliation: Nx00FA;cleo de Px00F3;s-Graduax00E7;x00E3;o em Medicina da Universidade Federal de Sergipe-UFS, Sx00E3;o Cristx00F3;vx00E3;o, Sergipe, Brazil.
authors.forename: Catarina Andrade
authors.initials: CA
authors.lastname: Garcez
authors.forename: Eduardo Luis Aquino
authors.initials: EL
authors.lastname: Neves
authors.forename: Saulo Maia D''avila
authors.initials: SM
authors.lastname: Melo
authors.forename: Paula Santos
authors.initials: PS
authors.lastname: Nunes
authors.forename: Lidiane Carine Lima
authors.initials: LC
authors.lastname: Barreto
authors.forename: Iandra Maria Pinheiro
authors.initials: IM
authors.lastname: Costa
authors.forename: Cynthia Coelho
authors.initials: CC
authors.lastname: Souza
authors.forename: Rejane Lenier
authors.initials: RL
authors.lastname: Rezende
authors.forename: Adriano Antunes de Souza
authors.initials: AA
authors.lastname: Araújo
mesh_terms: D000328:Adult; D001938:Brazil; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D002869:Chromosome Aberrations; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000502:physiology; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D012132:Respiratory Muscles / Q000503:physiopathology*; D012133:Respiratory Paralysis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D055815:Young Adult