Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms - 24/08/17
, Arpana Silwal, MRCPCH 2, Richa Sud, PhD 3, Michael G. Hanna, FRCP 1, Adnan Y. Manzur, FRCPCH 2, Francesco Muntoni, FRCPCH 2, Pinki Munot, MRCPCH 2Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : myotonia, periodic paralysis, cramps, gait, strabismus
Abbreviations : ATS, hyperPP, hypoPP, MC
Plan
| Supported by the National Institute for Health Research, and the Medical Research Council. E.M. is funded by a postdoctoral fellowship from the National Institute for Health Research Rare Diseases Translational Research Collaboration (BRC147/NS/MH). M.H. is supported by a Medical Research Council Centre grant (512225), the UCLH Biomedical Research Centre, the National Centre for Research Resources, and the National Highly Specialised Service (HSS) Department of Health UK. F.M. is supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. The authors declare no conflicts of interest. |
Vol 188
P. 181 - septembre 2017 Retour au numéro
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