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Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms

Matthews, E; Silwal, A; Sud, R; Hanna, MG; Manzur, AY; Muntoni, F; Munot, P; (2017) Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms. Journal of Pediatrics , 188 181-185.e6. 10.1016/j.jpeds.2017.05.081. Green open access

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Abstract

Objective To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. Study design Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. Results Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy. Neonatal hypotonia was observed in periodic paralysis. Scoliosis and/or contractures were demonstrated in 6 of 38 children. School attendance or ability to engage fully in all activities was often limited (25 of 38). Conclusions Children with skeletal muscle channelopathies frequently display symptoms that are uncommon in adult disease. Any child presenting with abnormal gait, leg cramps, or strabismus, especially if intermittent, should prompt examination for myotonia. Those with sodium channel disease should be monitored for respiratory or bulbar complications. Neonatal hypotonia can herald periodic paralysis. Early diagnosis is essential for children to reach their full educational potential.

Type: Article
Title: Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jpeds.2017.05.081
Publisher version: https://doi.org/10.1016/j.jpeds.2017.05.081
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Pediatrics, HYPERKALEMIC PERIODIC PARALYSIS, NEONATAL EPISODIC LARYNGOSPASM, SODIUM-CHANNEL GENE, MYOTONIA-CONGENITA, SCN4A GENE, PARAMYOTONIA-CONGENITA, ANDERSENS-SYNDROME, MUTATION, PHENOTYPE, DIAGNOSIS
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/10051641
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