Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
E-pub ahead of print

Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Brain malformation in single median maxillary central incisor

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis: A Phase 2 Randomized Control Trial

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. National, clinical cohort study of late effects among survivors of acute lymphoblastic leukaemia: the ALL-STAR study protocol

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Episodic hyperCKaemia may be a feature of α-methylacyl-coenzyme A racemase deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

AIM:  The diagnostic workup in patients with delayed motor milestones suspected of having either myopathy or a congenital myasthenic syndrome is complex. Our hypothesis was that performance of a muscle biopsy and neurophysiology including stimulated single-fiber electromyography during an anesthetic procedure, combined with genetic testing has a high diagnostic quality.

MATERIALS AND METHODS:  Clinical and paraclinical data were retrospectively collected from 24 patients aged from 1 month to 10 years (median: 5.2 years).

RESULTS:  Neurophysiology examination was performed in all patients and was abnormal in 11 of 24. No patients had findings suggestive of a myasthenic syndrome. Muscle biopsy was performed in 21 of 24 and was normal in 16. Diagnostic findings included nemaline rods, inclusion bodies, fiber size variability, and type-II fiber atrophy. Genetic testing with either a gene panel or exome sequencing was performed in 18 of 24 patients, with pathogenic variants detected in ACTA1, NEB, SELENON, GRIN2B, SCN8A, and COMP genes.

CONCLUSION:  Results supporting a neuromuscular abnormality were found in 15 of 24. In six patients (25%), we confirmed a genetic diagnosis and 12 had a clinical neuromuscular diagnosis. The study suggests that combined use of neurophysiology and muscle biopsy in cases where genetic testing does not provide a diagnosis can be useful in children with delayed motor milestones and clinical evidence of a neuromuscular disease.

Original languageEnglish
JournalNeuropediatrics
ISSN0174-304X
DOIs
Publication statusE-pub ahead of print - 11 Mar 2021

    Research areas

  • children, diagnostic yield, muscle biopsy, neuromuscular disorders, single fiber electromyography

ID: 64276703