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.

Disfagia na doença de Charcot-Marie-Tooth: relato de caso

“…Em estudos que relacionaram a qualidade de vida com as alterações físicas na CMT, os escores de qualidade de vida foram significativamente menores que na população saudável 13 . Já em estudo comparativo 14 , houve maior impacto na qualidade de vida nas esferas social e emocional, em concordância com os domínios comunicação e saúde mental alterados no SWAL-QOL deste caso.…”

Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy

“…A number of studies of the influence of CMT on QoL have been published in the past several years; however, they have been either in small numbers of patients, with non-validated instruments, and/or specific to non-US locations, which reduce their generalizability to US populations 27, 32– 34 . These studies have employed generic QoL instruments, such as the EQ-5D 32, 35 , SF-36 33, 34, 36 , the Child Health Questionnaire 37, 38 , and qualitative interviews using a semi-structured approach and open-ended questions 27 . Moreover, different evaluations have produced opposing results.…”

“…In summary, variable results have been found in terms of QoL domains affected, with some studies showing that social and emotional aspects were significantly affected by the disease 34 , and others showing no long-term influence on social and emotional functioning, but instead demonstrating impacts on physical and mental health 33 . Moreover, the impact of disease progression on QoL is unclear, as some researchers have found paradoxical outcomes of worsening disease with no or only mild deterioration in QoL 27, 33 .…”

Avaliação clínica e neurofisiológica das possíveis consequências da intolerância à glicose ou do diabetes mellitus em pacientes com neuropatia sensitivo motora hereditária secundária à duplicação do cromossomo 17p11.2

“…Alguns estudos já se propuseram a avaliar a qualidade de vida de pacientes com CMT, mostrando que alguns domínios do questionário SF-36 revelam maior comprometimento entre pacientes com CMT do que em controles normais; havendo, porém, uma variação desses parâmetros, provavelmente associada às características culturais e sociais das populações estudadas (Vinci et al, 2005;Padua et al, 2006Padua et al, , 2008Redmond et al, 2008;Taniguchi et al, 2013).…”