Myositis or dystrophy? Traps and pitfalls

Benveniste, Olivier; Romero, Norma B.

doi:10.1016/j.lpm.2010.11.023

Cited by 57 publications

(54 citation statements)

References 36 publications

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“…The early diagnosis of Pompe disease by the detection of mutations in the GAA gene allows patients to initiate enzyme replacement therapy that can dramatically improve muscle strength and decreases mortality [11]. In addition, the accurate molecular diagnosis of patients with progressive muscular dystrophies presenting like an inflammatory myopathy prevents harmful and expensive immunosuppressant therapy [12]. Thus, an early and accurate molecular diagnosis for patients with rare neurological diseases is fundamental for initiating the optimal treatment regimen and discontinuing inappropriate therapies.…”

Section: The Importance Of a Diagnosismentioning

confidence: 99%

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Warman‐Chardon

Beaulieu

Hartley

et al. 2015

Curr Neurol Neurosci Rep

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Neurological disorders secondary to single gene mutations are an extremely heterogeneous group of diseases, individually rare, and often associated with progressive and severe disability. Given the degree of both clinical and genetic heterogeneity, next-generation sequencing (NGS) has become an important diagnostic tool. Multi-gene panel testing based on NGS is now prominently used, while whole-exome sequencing and whole-genome sequencing are emerging to facilitate the molecular diagnosis for many genetic neurological diseases. Although single-gene testing remains an important first tier test for disorders with clear phenotype-genotype correlation, NGS provides an expanding unbiased approach to identify rare mutations in genes known to be associated with genetically heterogeneous diseases, and those not initially considered by the clinician due to rarity or atypical clinical presentation. Given the decreasing costs and relatively rapid time to results, NGS-based assessment is quickly becoming a standard-of-care test for patients with genetic neurological diseases.

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Section: The Importance Of a Diagnosismentioning

confidence: 99%

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Warman‐Chardon

Beaulieu

Hartley

et al. 2015

Curr Neurol Neurosci Rep

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“…The differential diagnosis between limb girdle muscular dystrophy and inflammatory myopathies may be sometimes very difficult 20 . Both subacute rapid onset and negative familial history suggest inflammatory myopathy 20 .…”

Section: How Do We Know If Our Patients Have a Limb Girdle Muscular Dmentioning

confidence: 99%

“…Both subacute rapid onset and negative familial history suggest inflammatory myopathy 20 . Image studies may be regarded with caution as hyperintensities observed on magnetic resonance STIR images may indicate both inflammation in myositis or they may precede fatty degeneration in muscular dystrophies 20 . Even in these cases, image studies are a valuable tool to choose the most adequate muscle biopsy site (STIR hyperintensities on magnetic resonance).…”

Section: How Do We Know If Our Patients Have a Limb Girdle Muscular Dmentioning

confidence: 99%

“…It is important to be aware that the absence of classic signs of polymyositis or dermatomyositis does not exclude the diagnosis of inflammatory myopathy. Immunemediated necrotizing myopathy may present necrotic muscle fibers with sparse inflammatory infiltrate, morphologically mimicking muscular dystrophy 20,21 . Serologic investigation should include the search for viral infections such as HTLV-1, HIV, HBV, and HCV, as well as autoantibodies for the differential diagnosis.…”

Section: How Do We Know If Our Patients Have a Limb Girdle Muscular Dmentioning

confidence: 99%

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Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Cotta¹,

Carvalho²,

da-Cunha-Júnior³

et al. 2014

Arq. Neuro-Psiquiatr.

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Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.Keywords: muscular dystrophies, ultrasonography, biopsy, magnetic resonance imaging, neuromuscular diseases. RESUMOAs distrofias musculares progressivas cintura-membros são desordens neuromusculares hereditárias autossômicas heterogêneas. Elas produzem alterações distróficas à biópsia muscular e estão associadas a mutações em diversos genes envolvidos na estrutura e função muscular. Fluxograma diagnóstico, fotos, tabelas e diagramas ilustrados dos aspectos clínicos, laboratoriais e de imagem são apresentados para o diagnóstico diferencial de distrofias musculares cintura-membros autossômicas recessivas comuns, diagnosticadas atualmente em um centro de referência no Brasil. Exames de imagem pré-operatórios direcionam o local da biópsia muscular. O padrão de envolvimento muscular difere de acordo com o subtipo de distrofia muscular cintura-membros. A substituição fibroadiposa do tecido muscular é mais acentuada no compartimento posterior da coxa na calpainopatia e proteinopatia relacionada à fukutina; anterior da coxa na sarcoglicanopatia; difusa na coxa na disferlinopatia e teletoninopatia. O diagnóstico diferencial preciso das distrofias musculares cintura-membros é importante para o aconselhamento genético, orientação prognóstica, tratamento cardíaco e respiratório. Além disso poderá, no futuro, provavelmente, propiciar terapias gênicas específicas para cada subtipo.Palavras-chave: distrofias musculares, ultrassonografia, biópsia, imagem por ressonância magnética, doenças neuromusculares.

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“…A major confusing factor clinically is that similar infiltrates may be seen in many dystrophies (i.e. genetically determined disorders) and this not infrequently leads to erroneous diagnosis and treatment ( [1] in this edition). This has been noted particularly for dysferlinopathy, but is also seen in other dystrophies.…”

Section: Why Classify?mentioning

confidence: 99%

Observations on the classification of the inflammatory myopathies

Hilton‐Jones

2011

La Presse Médicale

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This brief review considers historical approaches to the classification of the inflammatory myopathies. The last 25 years have seen advances in our knowledge of the underlying immune mechanism but the initial trigger for the idiopathic inflammatory myopathies remains unknown. Existing classifications have their limitations, but with the absence of a "gold standard" a definitive classification is not yet possible. Despite these problems, a working classification is possible that is valuable for everyday clinical practice.

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Myositis or dystrophy? Traps and pitfalls

Cited by 57 publications

References 36 publications

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Observations on the classification of the inflammatory myopathies

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