title: Quality of life in patients with Charcot-Marie-Tooth disease type 1A.
abstract: We assessed the functional impairment in Charcot-Marie-Tooth resulting from 17p11.2-p12 duplication (CMT1A) patients using the Short-Form Health Survey (SF-36), which is a quality of life questionnaire. Twenty-five patients of both genders aged ≥10 years with a positive molecular diagnosis of CMT1A were selected. Age- and gender-matched Control Group (without family history of neuropathy), and the sociodemographic and professional conditions similar to the patients' group were selected to compare the SF-36 results between them. The results showed that the majority quality of life impairments in CMT1A patients occurred in the social and emotional domains. Functional capacity also tended to be significantly affected; other indicators of physical impairment were preserved. In conclusion, social and emotional aspects are mostly neglected in the assistance provided to CMT1A Brazilian patients, and they should be better understood in order to offer global health assistance with adequate quality of life as a result.
authors.affiliation: Department of Neuroscience and Behavior Sciences, Ribeirão Preto Medical School, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Juliana B
authors.initials: JB
authors.lastname: Taniguchi
authors.forename: Valéria M C
authors.initials: VM
authors.lastname: Elui
authors.forename: Flávia L
authors.initials: FL
authors.lastname: Osório
authors.forename: Jaime E C
authors.initials: JE
authors.lastname: Hallak
authors.forename: José A S
authors.initials: JA
authors.lastname: Crippa
authors.forename: João P
authors.initials: JP
authors.lastname: Machado-de-Sousa
authors.forename: Leonardo M
authors.initials: LM
authors.lastname: Kebbe
authors.forename: Charles M
authors.initials: CM
authors.lastname: Lourenço
authors.forename: Raquel M
authors.initials: RM
authors.lastname: Scarel-Caminaga
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000503:physiopathology* / Q000523:psychology*; D002648:Child; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D002886:Chromosomes, Human, Pair 17; D004812:Epidemiologic Methods; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011506:Proteins / Q000235:genetics; D011788:Quality of Life / Q000523:psychology*; D012737:Sex Factors; D012959:Socioeconomic Factors; D014314:Trisomy; D055815:Young Adult
chemical_list: C109561:CDRT1 protein, human; D011506:Proteins