Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophy

Abstract

Neuromuscular disorders are rare diseases with a chronic and debilitating course. Unfortunately, data on the health-related quality of life (HRQoL) in neuromuscular diseases are limited. The objective of this multicentre cross-sectional study was to compare the HRQoL in patients with amyotrophic lateral sclerosis (ALS), facioscapulohumeral muscular dystrophy (FSHD) and myasthenia gravis (MG) and to identify the determinants of the HRQoL in these diseases. We recruited 91 consecutive outpatients with ALS (n = 37), FSHD (n = 17) or MG (n = 37) in seven specialized German health centres. The HRQoL was determined using the 36-Item Short Form Health Survey (SF-36) and the EuroQol (EQ-5D). Independent predictors of the HRQoL were identified using multiple regression analysis. The HRQoL in all domains of the SF-36, except for bodily pain, was significantly reduced. The domains related to physical health (physical functioning, physical role) were most affected. The EQ-5D-index score was most reduced in ALS (0.54) and least reduced in MG (0.89). Independent predictors of a reduced HRQoL were disease severity and depression in ALS, and disease severity, depression, older age and increased body-mass index in MG. The patterns of HRQoL-impairment in neuromuscular disorders share some common features, such as a more pronounced reduction in the HRQoL related to physical health, but there are a number of disease-specific features that should be considered in outcomes of clinical trials and treatment guidelines. In addition to the treatment of motor symptoms, greater attention should be paid to the treatment of depression, which was found to be among the independent predictors of the HRQoL in ALS and MG.

Quality of life and life circumstances in German myasthenia gravis patients

“…depression), and employment were determinants of QoL. Similar determinants of QoL were found in another German study by Winter et al [29]: disease severity, depression, older age and increased body-mass-index (n = 37). These specific aspects are discussed more deeply in the following sections.…”

Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study

“…In most cases RDs are lifethreatening, chronic and debilitating, requiring long-term and costly formal and informal care [2]. The lack of quick diagnosis and effective treatment often underlies the shortened life expectancy and reduced health-related quality of life (HRQOL) of these patients and their families [3][4][5]. Although some country-specific research on a limited set of RDs has been done on HRQOL and cost of illness [3][4][5][6][7][8], cross-national research on the socio-economic impact of RDs is still lacking in the EU.…”

Social/economic costs and health-related quality of life in patients with rare diseases in Europe

“…Although some countryspecific research on a limited set of rare diseases has been done on HRQOL and cost-of-illness [8][9][10][11][12], cross-national research on the socio-economic impact of rare diseases is still lacking in the EU.…”