Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms

To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over...

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Bibliographic Details
Published in:The Journal of pediatrics 2017-09, Vol.188, p.181-185.e6
Main Authors: Matthews, Emma, Silwal, Arpana, Sud, Richa, Hanna, Michael G., Manzur, Adnan Y., Muntoni, Francesco, Munot, Pinki
Format: Article
Language:English
Subjects:
Absenteeism
Adolescent
Airway Obstruction
Channelopathies - complications
Channelopathies - diagnosis
Child
Child, Preschool
Contracture - etiology
cramps
Diplopia - etiology
Female
gait
Gait Disorders, Neurologic
Humans
Infant
Infant, Newborn
Male
Muscle Cramp - etiology
Muscle Hypotonia - etiology
myotonia
Myotonic Disorders - diagnosis
Myotonic Disorders - genetics
NAV1.4 Voltage-Gated Sodium Channel - genetics
periodic paralysis
Respiratory Sounds - etiology
Retrospective Studies
Scoliosis - etiology
Sodium Channels - genetics
strabismus
Strabismus - etiology
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Summary:To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. 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. 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). 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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2017.05.081