Emma Robinson, Neuromuscular Research Physiotherapist at the John Walton Muscular Dystrophy Research Center at Newcastle University, discusses how losing the ability to stand affects dysferlinopathy patients’ social participation.
Dysferlin-related limb-girdle muscular dystrophy R2 (LGMD R2), also known as dysferlinopathy, is one type of limb-girdle muscular dystrophy (previously known as LGMD 2B). These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arm, leg, finger, toe, and facial muscles. Specifically, dysferlinopathy is a slow, progressive disease that causes muscle weakness and atrophy of the pelvic muscles and muscles of the shoulder girdle. Dysferlinopathy is caused by variations in the DYSF gene.
Commonly, patients with dysferlinopathy have difficulties independently moving from a sitting to a standing position (STS). This tends to occur before the loss of independent ambulation. The objective of this study was to determine if there is a relationship between the loss of ability to stand from a sitting position and social participation. Additionally, the study observed the impact of loss of function on individuals with dysferlinopathy and potential management strategies.
Baseline data from 205 patients in the Clinical Outcome study for Dysferlinopathy as well as a focus group consisting of five patients discussing the impact of losing the ability of STS were examined. Additionally, clinician rate scores of STS from the North Star assessment for limb-girdle type muscular dystrophies, participant-reported Activity limitations for patients with upper and/or lower limb impairments (ACTIVLIM), and participant responses to the Quality of Life in Genetic Neuromuscular Disease Questionnaire (QOLgNMD) were analyzed for association.
Statistically significant findings were observed in responses to:
- The ability to STS and the ability to get on/off the toilet and in/out of a car
- The ability to STS and the ability to leave the house alone
- The ability to leave the house alone and feeling restricted in certain activities
No statistical tests were carried out in relation to wheelchair use. However, the frequency of responses in the group of participants who were unable to STS but were able to leave the house alone indicated that the majority had a wheelchair, suggesting that wheelchairs are an enabler.
The patient focus group identified five themes related to difficulties with STS. The most prevalent was equipment and support, as well as coping/compensation strategies, social impact, emotional impact, and impact on daily activities. Overall, it was observed that the use of equipment or support from others was helpful in managing STS difficulties. These management strategies allowed people with dysferlinopathy to remain socially active, as losing the ability of STS was associated with a reduction in social participation. In order to combat these challenges, early referrals to wheelchair providers may be beneficial to patients, regardless of ambulatory ability.
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