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- W2755562826 abstract "Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive muscular dystrophy to affect quality of life (QoL). The aim of the study is to study QoL in people with FSHD1. We have analysed data obtained from the UK FSHD patient registry, the Qol was ascertained by the Individualised Neuromuscular Quality of Life Questionnaire (INQoL). A total of 398 UK genetically confirmed FSHD1 patients completed provided information, the median age was 47.9 years and the median disease duration was 26.2. The median overall INQoL score was 53.1 (34.3). The sub-domains with the highest median scores, indicating the greatest impact on quality of life were muscle weakness 63.2 (26.4), activities 57.4 (58.6) and body image 59.7 (51.4). The least impact on quality of life is in the areas of muscle locking 10.5 (22.4) and relationships 20.4 (16.7). The weakness score in males 73.7 (36.8) was significantly (p < 0.001) higher than in females 68.4 (47.4). No other domain score was affected by gender. The overall INQol is higher in patients with an earlier onset of the disease. INQoL sore increases with statistical significance with younger age of onset and with longer disease duration (p < 0.005) and a higher total INQol score is related seen in patients with a shorter EcoRI fragment (p < 0.05). FSHD1 produces a negative impact in QoL. Identification of the elements that decrease the QoL of FSHD1 patients may lead to effective treatment and provide better orientation for rehabilitation to improve the QoL in FSHD1 patients." @default.
- W2755562826 created "2017-09-25" @default.
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- W2755562826 date "2017-10-01" @default.
- W2755562826 modified "2023-09-27" @default.
- W2755562826 title "Quality of life in patients with facioscapulohumeral dystrophy type 1" @default.
- W2755562826 doi "https://doi.org/10.1016/j.nmd.2017.06.391" @default.
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