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| المؤلفون الرئيسيون: | , , , , , , , , , , , , , , , |
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| التنسيق: | Recurso digital |
| اللغة: | الإنجليزية |
| منشور في: |
Zenodo
2026
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.1111/ene.70493 |
| الوسوم: |
إضافة وسم
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| _version_ | 1866902173095297024 |
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| author | Kyriakides T Aleksovska K Angelini C Argov Z Claeys KG de Visser M FIlosto M Jovanovic I Kostera-Pruszczyk A Molnar MJ Sacconi S Schaefer J Siciliano G Vilchez JJ Schoser B Toscano A |
| author_facet | Kyriakides T Aleksovska K Angelini C Argov Z Claeys KG de Visser M FIlosto M Jovanovic I Kostera-Pruszczyk A Molnar MJ Sacconi S Schaefer J Siciliano G Vilchez JJ Schoser B Toscano A |
| contents | BACKGROUND: Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. OBJECTIVE: This guideline aims to provide updated, evidence-based recommendations on investigating persons older than 18 years. METHODS: The guideline followed EAN standard operating procedures and was developed according to the GRADE methodology. Fourteen neuromuscular experts from the EAN neuromuscular group were joined by a methodologist and a patient representative. There are two types of recommendations: evidence-based recommendations, based on published studies, and consensus statements if the quality of evidence is poor. RESULTS: We recommend that: (1) Persistent oligo/asymptomatic hyperCKemia with a CK > 1.5 ULN be investigated (Consensus statement); (2) Neurogenic and non-neuromuscular causes of hyperCKemia be excluded (Expert opinion); (3) A Dried Blood Spot (DBS) be done (Strong recommendation); (4) A NCS/EMG to identify whether there is a myopathy or neuropathy be performed (Weak recommendation); (5) A resting lactate and fasting acyl-carnitine assays, if a metabolic myopathy is suspected, be done (Consensus statement); (6) A skeletal muscle MRI be performed to guide/interpret genetic testing (Strong recommendation); (7) NGS is recommended over sequential gene testing (Consensus statement); (8) NGS is recommended over muscle biopsy (Strong recommendation); (9) A muscle biopsy may be offered, if genetic testing is uninformative and one or more applies: a genetic variant of unknown significance (VUS), suspected metabolic myopathy, suspected inflammatory myopathy, abnormal muscle MRI, a CK = 3 ULN, a family history of muscle disease or age, less than 25 years (Expert opinion). CONCLUSIONS: An evidence-based guideline is suggested for when and how to investigate adults with oligo/asymptomatic hyperCKemia. © 2026 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. |
| format | Recurso digital |
| id | zenodo_https___doi_org_10_1111_ene_70493 |
| institution | Zenodo |
| language | eng |
| publishDate | 2026 |
| publisher | Zenodo |
| record_format | zenodo |
| spellingShingle | EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia. Kyriakides T Aleksovska K Angelini C Argov Z Claeys KG de Visser M FIlosto M Jovanovic I Kostera-Pruszczyk A Molnar MJ Sacconi S Schaefer J Siciliano G Vilchez JJ Schoser B Toscano A GRADE creatine kinase diagnostic techniques and procedures guidelines muscle biopsy oligo/asymptomatic hyperCKemia BACKGROUND: Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. OBJECTIVE: This guideline aims to provide updated, evidence-based recommendations on investigating persons older than 18 years. METHODS: The guideline followed EAN standard operating procedures and was developed according to the GRADE methodology. Fourteen neuromuscular experts from the EAN neuromuscular group were joined by a methodologist and a patient representative. There are two types of recommendations: evidence-based recommendations, based on published studies, and consensus statements if the quality of evidence is poor. RESULTS: We recommend that: (1) Persistent oligo/asymptomatic hyperCKemia with a CK > 1.5 ULN be investigated (Consensus statement); (2) Neurogenic and non-neuromuscular causes of hyperCKemia be excluded (Expert opinion); (3) A Dried Blood Spot (DBS) be done (Strong recommendation); (4) A NCS/EMG to identify whether there is a myopathy or neuropathy be performed (Weak recommendation); (5) A resting lactate and fasting acyl-carnitine assays, if a metabolic myopathy is suspected, be done (Consensus statement); (6) A skeletal muscle MRI be performed to guide/interpret genetic testing (Strong recommendation); (7) NGS is recommended over sequential gene testing (Consensus statement); (8) NGS is recommended over muscle biopsy (Strong recommendation); (9) A muscle biopsy may be offered, if genetic testing is uninformative and one or more applies: a genetic variant of unknown significance (VUS), suspected metabolic myopathy, suspected inflammatory myopathy, abnormal muscle MRI, a CK = 3 ULN, a family history of muscle disease or age, less than 25 years (Expert opinion). CONCLUSIONS: An evidence-based guideline is suggested for when and how to investigate adults with oligo/asymptomatic hyperCKemia. © 2026 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. |
| title | EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia. |
| topic | GRADE creatine kinase diagnostic techniques and procedures guidelines muscle biopsy oligo/asymptomatic hyperCKemia |
| url | https://doi.org/10.1111/ene.70493 |