Dysferlin deficiency treated like refractory polymyositis

Vinit, J.; Samson, M.; Gaultier, J.-B.; Laquerrière, Annie; Ollagnon, Elisabeth; Petiot, P.; Marie, I.; Lévesque, H.; Rousset, H.

doi:10.1007/s10067-009-1273-1

Cited by 15 publications

(9 citation statements)

References 7 publications

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“…Clinical factors that can compound the difficult in distinguishing between dysferlinopathy and myositis include the age of onset (22-23 years) [7,8], that can vary from 12 to 59 years [8], the occasional rapidity of disease progression, and the lack of cardiac, respiratory and facial impairment in dysferlinopathy. In general, cases of dysferlinopathy misdiagnosed as polymyositis and treated with immunosuppressants have been reported [13][14][15] LGMD limb-girdle muscular dystrophy cases of dysferlinopathy in whom rituximab (anti-CD20 monoclonal antibody depleting B cells) seemed to ameliorate limb girdle and grip strength [16]. Although many dysferlinopathy patients have muscle inflammation, the molecular mechanisms that initiate and perpetuate this inflammation are not well understood.…”

Section: Discussionmentioning

confidence: 99%

Myositis or dystrophy? Traps and pitfalls

Benveniste

Romero

2011

La Presse Médicale

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Section: Discussionmentioning

confidence: 99%

Myositis or dystrophy? Traps and pitfalls

Benveniste

Romero

2011

La Presse Médicale

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“…If this is true, then the disease incidence may also be higher than previously estimated. This would not be surprising since dysferlinopathy patients have frequently been misdiagnosed with polymyositis [Vinit et al., ; Angelini et al., ] and may be confused with other degenerative muscle diseases. In addition, the high cost and limited access to dysferlin molecular analysis leave a large majority of dysferlinopathy with a diagnosis of undefined limb‐girdle muscular dystrophy.…”

Section: Discussionmentioning

confidence: 99%

Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes

et al. 2014

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Dysferlinopathies are autosomal recessive inherited muscular dystrophies caused by mutations in the gene DYSF. Dysferlin is primarily expressed in skeletal muscle, cardiac muscle, and peripheral blood monocytes. Expression in skeletal muscle and monocytes strongly correlates in healthy and disease states. We evaluated the efficiency of the monocyte assay to detect carriers and to determine the carrier frequency of dysferlinopathies in the general population. We enrolled 149 healthy volunteers and collected peripheral blood samples for protein analysis. While 18 of these individuals with protein levels in the range of 40%-64% were predicted to be carriers by the monocyte assay, subsequent DYSF sequencing analysis in 14 of 18 detected missense variants in only four. Analysis of DNA methylation patterns at the DYSF locus showed no changes in methylation levels at CpG islands and shores between samples. Our results suggest that: (1) dysferlin expression can also be regulated by factors outside of the dysferlin gene, but not related to DNA methylation; (2) carrier frequency and therefore the number of affected individuals could be higher than previously estimated; and (3) although reliable for evaluating dysferlinopathies, the monocyte assay cannot be used to determine the carrier status; for this, a molecular analysis of DYSF must be performed.

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“…In cases with only trivial muscle pathology, biopsy analyses are usually non-specific or even normal. However, many genetically confirmed LGMD cases have been mistakably diagnosed as acquired myopathies (136). Hence, EM and immunohistochemistry are essential to establish the diagnosis of LGMD.…”

Section: Diagnostic Strategymentioning

confidence: 99%

Limb-girdle muscular dystrophies: Where next after six decades from the first proposal (Review)

Mahmood

Jiang

2014

Molecular Medicine Reports

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Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of disorders, which has led to certain investigators disputing its rationality. The mutual feature of LGMD is limb-girdle affection. Magnetic resonance imaging (MRI), perioral skin biopsies, blood-based assays, reverse-protein arrays, proteomic analyses, gene chips and next generation sequencing are the leading diagnostic techniques for LGMD and gene, cell and pharmaceutical treatments are the mainstay therapies for these genetic disorders. Recently, more highlights have been shed on disease biomarkers to follow up disease progression and to monitor therapeutic responsiveness in future trials. In this study, we review LGMD from a variety of aspects, paying specific attention to newly evolving research, with the purpose of bringing this information into the clinical setting to aid the development of novel therapeutic strategies for this hereditary disease. In conclusion, substantial progress in our ability to diagnose and treat LGMD has been made in recent decades, however enhancing our understanding of the detailed pathophysiology of LGMD may enhance our ability to improve disease outcome in subsequent years.

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Dysferlin deficiency treated like refractory polymyositis

Cited by 15 publications

References 7 publications

Myositis or dystrophy? Traps and pitfalls

Myositis or dystrophy? Traps and pitfalls

Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes

Limb-girdle muscular dystrophies: Where next after six decades from the first proposal (Review)

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