The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

Sluijs, B.M. van der; Knoop, Hans; Bleijenberg, Gijs; Engelen, B.G.M. van; Voermans, Nicol C.

doi:10.1016/j.nmd.2015.12.009

Cited by 15 publications

(10 citation statements)

References 23 publications

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“…Patients and physicians gave discordant answers regarding most signs and symptoms. The structure of the discordance suggests that patients tend to ignore or minimize the impairments the FSHD-specific symptoms are related to, which is in accord with our experience and has been described in patients with oculopharyngeal muscular dystrophy [30]. However, symptoms related to comorbidities showed a different behavior.…”

Section: Patients and Physicians Disagree On Symptomssupporting

confidence: 87%

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Sanson

Stalens²,

Guien³

et al. 2022

Orphanet J Rare Dis

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Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. Results Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. Conclusions Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.

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Section: Patients and Physicians Disagree On Symptomssupporting

confidence: 87%

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Sanson

Stalens²,

Guien³

et al. 2022

Orphanet J Rare Dis

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Section: Presentationmentioning

confidence: 99%

“…Coexistence with dementia [31,32], executive function deficits [33], or peripheral neuropathy [34] was reported. Approximately half of the patients complained of fatigue and pain, and most of the patients were impaired in daily life activities, social participation, and ambulation [35]. The autosomal recessive form of OPMD, which is caused by the homozygous expansion of (GCN)11 repeats in the PABPN1 gene, has been reported as late-onset and less severe than the dominant form [1], although it can manifest various symptoms with an unusual onset and atypical clinical course [36].…”

Section: Presentationmentioning

confidence: 99%

Recent Progress in Oculopharyngeal Muscular Dystrophy

Yamashita

2021

JCM

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Oculopharyngeal muscular dystrophy (OPMD) is a late-onset intractable myopathy, characterized by slowly progressive ptosis, dysphagia, and proximal limb weakness. It is caused by the abnormal expansion of the alanine-encoding (GCN)n trinucleotide repeat in the exon 1 of the polyadenosine (poly[A]) binding protein nuclear 1 gene (11–18 repeats in OPMD instead of the normal 10 repeats). As the disease progresses, the patients gradually develop a feeling of suffocation, regurgitation of food, and aspiration pneumonia, although the initial symptoms and the progression patterns vary among the patients. Autologous myoblast transplantation may provide therapeutic benefits by reducing swallowing problems in these patients. Therefore, it is important to assemble information on such patients for the introduction of effective treatments in nonendemic areas. Herein, we present a concise review of recent progress in clinical and pathological studies of OPMD and introduce an idea for setting up a nation-wide OPMD disease registry in Japan. Since it is important to understand patients’ unmet medical needs, realize therapeutically targetable symptoms, and identify indices of therapeutic efficacy, our attempt to establish a unique patient registry of OPMD will be a helpful tool to address these urgent issues.

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“…Different data regarding the characterization of myalgia in patients with defined muscle diseases exist. From clinical observation, it is already known that myalgia occurs in different muscle disorders, e.g., proximal myotonic myopathy (PROMM) [3], occulopharyngeal muscular dystrophy (OPMD) [4], myositis [5], statin-induced myopathy [6], and mitochondrial myopathy [7]. In many of these, myalgia is well known as one of the main symptoms.…”

Section: Introductionmentioning

confidence: 99%

Myalgia in 30 Patients with Suspected Myopathy

Urban

Lehmann

Scholle

et al. 2020

IJERPH

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Background: In patients with neuromuscular disorder, only little data of myalgia frequency and characterization exists. To date, only a weak correlation between pain intensity and pressure pain threshold has been found, and it remains enigmatic whether high pain intensity levels are equivalent to high pain sensitivity levels in neuromuscular disorders. Methods: 30 sequential patients with suspected neuromuscular disorder and myalgia were analyzed with regard to myalgia characteristics and clinical findings, including symptoms of depression and anxiety and pain- threshold. Results: A neuromuscular disorder was diagnosed in 14/30 patients. Muscular pain fasciculation syndrome (MPFS) without evidence for myopathy or myositis was diagnosed in 10/30 patients and 6/30 patients were diagnosed with pure myalgia without evidence for a neuromuscular disorder (e.g., myopathy, myositis, MPFS, polymyalgia rheumatica). Highest median pain scores were found in patients with pure myalgia and polymyalgia rheumatica. Pressure pain threshold measurement showed a significant difference between patients and controls in the biceps brachii muscle. Conclusion: Only a weak correlation between pain intensity and pressure pain threshold has been suggested, which is concordant with our results. The hypothesis that high pain intensity levels are equivalent to high pain sensitivity levels was not demonstrated.

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The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

Cited by 15 publications

References 23 publications

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Recent Progress in Oculopharyngeal Muscular Dystrophy

Myalgia in 30 Patients with Suspected Myopathy

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