Patient reported quality of life in limb girdle muscular dystrophy

Kovalchick, Laurel; Bates, Kameron; Statland, Jeffrey; Weihl, Conrad C.; Kang, Peter B.; Lowes, Linda; Mozaffar, Tahseen; Straub, Volker; Wicklund, Matthew; Heatwole, Chad; Johnson, Nicholas E.

doi:10.1016/j.nmd.2021.11.002

Cited by 6 publications

(4 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…With regards to HRQoL, the results indicated that not only the physical dimension but also the psychosocial or mental dimension were affected, with the physical one being the most reduced. This is in line with previous studies reporting that the physical health dimension of HRQoL was the most affected in patients diagnosed with different NMDs [46][47][48][49]. Nevertheless, some authors have recently suggested that impairments in mental function are the most significant predictors of HRQoL [33].…”

Section: Discussionsupporting

confidence: 91%

Effects of Coping Strategies on Health-Related Quality of Life of People with Neuromuscular Diseases

García,

Rodríguez,

Angelini

et al. 2024

Muscles

View full text Add to dashboard Cite

Neuromuscular diseases (NMD) cover a broad spectrum of different rare diagnoses in which the primary lesion is in the peripheral nervous system. The impairment caused by an NMD does not only interfere with physical status but also has a clear impact on health-related quality of life (HRQoL). It is therefore essential to know the coping style used by these patients. This study aims to analyze the coping strategies in a sample of people with NMD and how their coping style affects their HRQoL. This cross-sectional study included 61 adult patients diagnosed with a rare NMD. WHO-DAS II, SIP, SF-36, and COPE-60 instruments were administered. The results showed that people affected by NMDs tend to use more frequent coping strategies such as active planning, personal growth, and acceptance. In contrast, the least-used strategies were restraint, mental disengagement, venting, humor, and religion, which affected HRQoL negatively. Moreover, the degree of disability was a relevant variable, with an impact on HRQoL. Social support can be considered the main coping strategy that leads to an improvement in the psychosocial HRQoL (β = 503, p < 0.001). These findings are relevant to clinical practice, given the need to understand the coping variable to improve HRQoL.

show abstract

Section: Discussionsupporting

confidence: 91%

Effects of Coping Strategies on Health-Related Quality of Life of People with Neuromuscular Diseases

García,

Rodríguez,

Angelini

et al. 2024

Muscles

View full text Add to dashboard Cite

show abstract

“…When our LGMD-D2 results are compared with another study that utilized INQoL in other recessive LGMD subtypes [17], it indicates that LGMD-D2 patients are more impaired in daily living activities, express higher levels of fatigue, and suffer more for locking consequences. In the case of studies where QoL has been assessed with other instruments in patients with recessive and dominant (non-transportinopathy) LGMD, our study and one conducted by Kovalchick et al [18] report mobility problems and the impact on activities of daily living. In addition, fatigue and impact on independence and social relationships are also reported in the present sample [18].…”

Section: Discussionmentioning

confidence: 89%

“…In the case of studies where QoL has been assessed with other instruments in patients with recessive and dominant (non-transportinopathy) LGMD, our study and one conducted by Kovalchick et al [18] report mobility problems and the impact on activities of daily living. In addition, fatigue and impact on independence and social relationships are also reported in the present sample [18].…”

Section: Discussionmentioning

confidence: 89%

“…Currently, LGMD has no curative treatment [15,16]. All these treatments are symptomatic, and it is necessary to consider that the symptomatology produced by the disease can limit life expectancy and reduce quality of life (QoL) [17,18]. Thus, patients typically report limitations in aspects such as mobility, difficulty in performing activities, limitations in social interaction, as well as emotional impact [17].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study

Rodríguez

Amayra

García

et al. 2023

Muscles

View full text Add to dashboard Cite

The present study is the first research that analyzes the quality of life (QoL) of people affected by a dominant form of limb–girdle muscular dystrophy, specifically limb–girdle muscular dystrophy D2 (LGMD-D2). Additionally, clinical forms of the individual cases of the six affected patients are presented. This study also aims to explore the differences between patients’ reports and caregivers’ reports, and between LGMD-D2 and recessive forms of LGMD. The instruments used were as follows: sociodemographic data, GSGC, and INQoL instrument. The sample consisted of six people affected by LGMD-D2: three caregivers of three affected people, and three patients with recessive LGMD. They came from associations of affected people and a hospital in Padua. Those affected have multiple symptoms that lead to disability, which ultimately leads to dependence on the assistance. The present study shows that LGMD-D2 has a greater impact on activities of daily living, fatigue, muscle pain, and independence than other LGMD pathologies or other neuromuscular diseases. It also appears that age could influence QoL, and that muscle weakness is a very disabling symptom in this variant. In the current context of constantly developing research for new treatments, it is essential to analyze which aspects are most affected. Finally, caregivers can play an essential role in symptom reporting, as certain psychological adjustment mechanisms in the patient may be interfering with the objectivity of the report.

show abstract

Prospective observational study of FKRP‐related limb‐girdle muscular dystrophy R9: A GRASP consortium study

Alfano,

James,

Grosfjeld Petersen

et al. 2024

Ann Clin Transl Neurol

View full text Add to dashboard Cite

ObjectiveLimb‐girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin‐related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb‐girdles and loss of motor function over time. Clinical management and future trial design are improved by determining which standardized clinical outcome assessments (COA) of function are most appropriate to capture disease presentation and progression, informing endpoint selection and enrollment criteria. The purpose of our study was to evaluate the cross‐sectional validity and reliability of clinical outcome assessments in patients with FKRP‐related LGMDR9 participating in the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP) natural history study.MethodsEnrolled patients completed a battery of COA on two consecutive days, including the North Star Assessment for limb girdle‐type dystrophies (NSAD), the 100‐m timed test (100 m), and the Performance of Upper Limb 2.0 (PUL).ResultsA total of 101 patients with FKRP‐related LGMDR9 completed COA evaluations. All functional COA were highly and significantly correlated even across constructs, except for the 9‐hole peg test. Similarly, all tests demonstrated excellent test–retest reliability across 2‐day visits. The NSAD and PUL demonstrate robust psychometrics with good targeting, ordered response thresholds, fit and stability, and limited dependency of items across the scales.ConclusionsThis study has determined the suitability of several functional COA, cross‐sectionally, in LGMDR9 to inform future trial design and clinical care.

show abstract

Patient reported quality of life in limb girdle muscular dystrophy

Cited by 6 publications

References 20 publications

Effects of Coping Strategies on Health-Related Quality of Life of People with Neuromuscular Diseases

Effects of Coping Strategies on Health-Related Quality of Life of People with Neuromuscular Diseases

Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study

Prospective observational study of FKRP‐related limb‐girdle muscular dystrophy R9: A GRASP consortium study

Contact Info

Product

Resources

About