Quality of life in patients with Charcot-Marie-Tooth disease type 1A

Arquivos de Neuro-Psiquiatria

Juliana B. Taniguchi¹  Valeria M.c. Elui¹  Flavia L. Osorio¹  Jaime E.c. Hallak¹  Jose A.s. Crippa¹  Joao P. Machado-de-sousa¹  Leonardo M. Kebbe¹  Charles M. Lourenco¹  Raquel M. Scarel-caminaga¹  Wilson Marques Jr¹ 

关键词: quality of life;    questionnaires;    Charcot-Marie-Tooth Disease;    qualidade de vida;    questionarios;    Doenca de Charcot-Marie-Tooth;   

DOI  :  10.1590/0004-282X20130045

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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