Upper limb function and activity in people with facioscapulohumeral muscular dystrophy: a web-based survey

Abstract

Purpose To investigate the upper extremity (UE) at the level of impairments and related activity limitations and participation restrictions in people with facioscapulohumeral muscular dystrophy (FSHD). Methods The study was conducted using web-based questionnaires that were distributed amongst people with FSHD in the Netherlands. Eighty-eight respondents started the survey, and 71 completed it. The questionnaires covered the following dimensions: Function, Activity and Participation of the International Classification of Functioning Disability and Health. Results More than 40% of the respondents experienced pain in one arm or both the arms. Increased pain and stiffness scores and longer disease duration were associated with increased limitation scores. For basic activities, lifting the arm above shoulder-level was most frequently reported as most limited, coherent with the clinical picture of FSHD. Among the respondents, 50% indicated restrictions at school, 78% indicated restrictions at work and more than 80% indicated restrictions whilst participating in sports, hobbies, household activities and romantic relationships. Conclusions This study has shown that alongside the well-known problem of lifting the arms above shoulder-level, UE activities below shoulder height during vocational and occupational activities are also problematic in patients with FSHD. Alongside disease duration, pain and stiffness are associated with UE activity limitations. Implications for Rehabilitation Attention is needed for pain and experienced stiffness in the upper extremity as it is frequently present in patients with FSHD. Rehabilitation professionals need to be aware that patients with FSHD not only experience problems with activities above shoulder height, but also with activities below shoulder height. At least 50% of the patients with FSHD experience restrictions in participation as a result of limitations in their UE.

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

“…First, we confirmed a high prevalence of pain, especially shoulder pain, even in asymptomatic patients (75% of symptomatic and asymptomatic patients). [33][34][35][36] Second, the observation of obviously affected mutation carriers who reported no symptoms (family member with foot drop) or had a very recent onset (family member with camptocormia) illustrates the fact that retrospective estimation of age at onset by patients is not reliable in all cases. We therefore prefer use of the age-corrected CCS.…”

Superficial Shoulder Muscle Synergy Analysis in Facioscapulohumeral Dystrophy During Humeral Elevation Tasks

“…Muscle quality decreases due to fat infiltration, but is weakly correlated with age where age onset varies greatly [2], [3]. Commonly occurring body impairments and functional limitations include scapular winging, joint instability, and a decline in upper extremity functionality [4], [5], [6], [7], [8]. In a questionnairebased survey, reaching and lifting objects above shoulder level were reported as "most limited" activities by 45% of FSHD participants [6].…”

“…Commonly occurring body impairments and functional limitations include scapular winging, joint instability, and a decline in upper extremity functionality [4], [5], [6], [7], [8]. In a questionnairebased survey, reaching and lifting objects above shoulder level were reported as "most limited" activities by 45% of FSHD participants [6]. Relative surface area, as a measure of the reachable workspace, decreases by 23 to 87% depending on the level of strength loss, in people with FSHD [9], [10].…”

Recommendations for studies on dynamic arm support devices in people with neuromuscular disorders: a scoping review with expert-based discussion

“…The worldwide prevalence of NMD is 160 per 100,000, which is similar to that of Parkinson's disease and double that of multiple sclerosis [2]. People with NMD commonly experience difficulties to perform movements against gravity, such as lifting the arms or reaching for an object [3]. These functional limitations translate into problems with activities of daily life (ADL) and participation in society.…”