European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia

Kyriakides, Theodoros; Angelini, Corrado; Vílchez, Juan J.; Hilton‐Jones, David

doi:10.1002/mus.26777

Cited by 7 publications

(7 citation statements)

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“…In patients with symptomatic hyperCKemia, patient history, clinical examination findings, and laboratory results often point to an underlying dystrophinopathy. However, CK levels do not always correlate with disease manifestations, which results in diagnostic difficulty, particularly in still asymptomatic patients 4 or, as illustrated in patients 1 and 6, in girls in whom an X-linked recessive condition is not immediately considered. Because hyperCKemia is almost always associated with the elevation of transaminases that are expressed in both the skeletal muscle and liver, hepatic pathology may be erroneously suspected, in particular if a history or additional symptoms thought to be suggestive of liver involvement are present, as illustrated in patients 1 and 3, respectively.…”

Section: Discussionmentioning

confidence: 99%

Unusual Presentations of Dystrophinopathies in Childhood

et al. 2018

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X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations require a higher degree of suspicion. In this article, we describe a series of 6 children (4 boys, 2 girls) referred to a tertiary pediatric neuromuscular clinic for isolated elevated creatine kinase levels (range: 720-7000 IU/L) identified on initial assessment for otherwise unexplained transaminase elevations ( = 2), a social communication disorder ( = 3), and exertional myalgia and/or rhabdomyolysis ( = 1). There was no preceding family history of neuromuscular disease. One boy had an additional history of severe cerebral palsy and cyclical vomiting, and 1 girl had a history of maternal hepatitis C. There was no significant weakness at presentation, and the majority remained stable over a prolonged period of follow-up (age range at last follow-up: 9-16 years). All 6 children were found to carry dystrophin gene mutations resulting in milder phenotypes. This series highlights that dystrophinopathies may not uncommonly present with features distinct from the classic Duchenne muscular dystrophy and Becker muscular dystrophy phenotypes in both boys and girls. Pediatricians should be aware of such atypical presentations to initiate a timely and adequate diagnostic process. Establishing the correct genetic diagnosis of a dystrophinopathy is important to allow appropriate genetic counseling, to implement relevant surveillance and management strategies, and to avoid unnecessary investigations in search of an incorrect alternative diagnosis.

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Section: Discussionmentioning

confidence: 99%

Unusual Presentations of Dystrophinopathies in Childhood

et al. 2018

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“…HyperCKemia was defined as a creatine kinase (CK) level greater than 1.5 times the upper limit of normal (ULN), as defined in the European Federation of the Neurological Societies (EFNS) guidelines. 26,27 All patients were evaluated by taking a clinical history and performing a neurological examination that included the Medical Research Council (MRC) scale for assessing muscle strength.…”

Section: Methodsmentioning

confidence: 99%

“…The inclusion criteria were presence of hyperCKemia (confirmed in two independent examinations) alone or in association with mild signs or symptoms of muscle disease. HyperCKemia was defined as a creatine kinase (CK) level greater than 1.5 times the upper limit of normal (ULN), as defined in the European Federation of the Neurological Societies (EFNS) guidelines 26,27 …”

Section: Methodsmentioning

confidence: 99%

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An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia

et al. 2021

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Introduction/Aims: Currently, there are no straightforward guidelines for the clinical and diagnostic management of hyperCKemia, a frequent and nonspecific presentation in muscle diseases. Therefore, we aimed to describe our diagnostic workflow for evaluating patients with this condition. Methods: We selected 83 asymptomatic or minimally symptomatic patients with persistent hyperCKemia for participation in this Italian multicenter study. Patients with facial involvement and distal or congenital myopathies were excluded, as were patients with suspected inflammatory myopathies or predominant respiratory or cardiac involvement. All patients underwent a neurological examination and nerve conduction and electromyography studies. The first step of the investigation included a screening for Pompe disease. We then evaluated the patients for myotonic dystrophy type II-related CCTG expansion and excluded patients with copy number variations in the DMD gene. Subsequently, the undiagnosed patients were investigated using a target gene panel that included 20 genes associated with isolated hyperCKemia.Results: Using this approach, we established a definitive diagnosis in one third of the patients. The detection rate was higher in patients with severe hyperCKemia and abnormal electromyographic findings.Discussion: We have described our diagnostic workflow for isolated hyperCKemia, which is based on electrodiagnostic data, biochemical screening, and first-line genetic investigations, followed by successive targeted sequencing panels. Both clinical signs and electromyographic abnormalities are associated with increased diagnostic yields.

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“…Dans les formes moins sévères, elles peuvent être confondues avec une dystrophie musculaire de Becker. Des phénotypes plus rares, tels qu'une hyperCKémie peu ou symptomatique, ou une intolérance à l'effort, ont également été rapportés [20]. Une scoliose est présente chez 33 à 48 % des patients, indépendamment du gène concerné, et des rétractions musculotendineuses apparaissaient fréquemment au cours de l'évolution de la maladie.…”

Section: Cliniqueunclassified

Les sarcoglycanopathies

et al. 2020

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Les sarcoglycanopathies font partie des dystrophies musculaires des ceintures (LGMD) autosomiques récessives et représentent la troisième cause la plus fréquente d’entre elles. Elles sont consécutives à un déficit d’un des sarcoglycanes α, β, γ, ou δ. La présentation clinique habituelle est celle d’une atteinte symétrique des muscles des ceintures pelvienne et scapulaire ainsi que du tronc, associée à une atteinte cardiorespiratoire plus ou moins sévère et une élévation franche des créatine-phospho-kinases (CPK). Les premiers symptômes apparaissent au cours de la première décennie, la perte de la marche survenant souvent au cours de la deuxième décennie. Les lésions sont de type dystrophique sur la biopsie musculaire. Il s’y associe une diminution ou une absence d’immunomarquage du sarcoglycane correspondant au gène muté, et dans une moindre mesure des trois autres sarcoglycanes associés. De nombreuses mutations ont été rapportées dans les quatre gènes impliqués et quelques-unes d’entre elles sont prépondérantes dans certaines populations. à ce jour, il n’existe pas de traitement curatif ce qui n’empêche pas de voir se développer de nombreux essais cliniques, notamment en thérapie génique.

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European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia

Cited by 7 publications

References 5 publications

Unusual Presentations of Dystrophinopathies in Childhood

Unusual Presentations of Dystrophinopathies in Childhood

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia

Les sarcoglycanopathies

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