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Case Reports
. 2020 May 12:5:57.
doi: 10.12688/wellcomeopenres.15798.2. eCollection 2020.

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events

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Case Reports

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events

Gabriel Cea et al. Wellcome Open Res. .

Abstract

Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the SCN4A gene, experience apnoeic events due to laryngospasm (myotonia) of the upper airway muscles that may present as a BRUE. We sought to ascertain the frequency, severity and outcome of infants carrying the G1306E SCN4A mutation commonly associated with this presentation. We report 14 new cases of individuals with the G1306E mutation from three unrelated families and perform a literature review of all published cases. Infants with the G1306E mutation almost universally experience laryngospasm and apnoeic events. The severity varies significantly, spans both low and high-risk BRUE categories or can be more severe than criteria for a BRUE would allow. At least a third of cases require intensive care unit (ICU) care. Seizure disorder is a common erroneous diagnosis. Apnoeas are effectively reduced or abolished by appropriate treatment with anti-myotonic agents. Probands with the G1306E mutation who are family planning need to be counselled for the likelihood of post-natal complications. There is readily available and extremely effective treatment for the episodic laryngospasm and apnoea caused by this mutation. Proactively seeking clinical evidence of myotonia or muscle hypertrophy with consideration of CK,EMG and genetic testing in high risk BRUEs or more complex apnoeic events may reduce avoidable and prolonged ICU admissions, patient morbidity and potentially mortality.

Keywords: Apnoea; Channelopathy; Laryngospasm; Muscle Disease; Myotonia; Paediatric; Sodium channel; Stridor.

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Conflict of interest statement

No competing interests were disclosed.

Figures

Figure 1.
Figure 1.
( A) Genogram of Family. Red arrow indicates index case. ( B) Calf hypertrophy in a male (case A:16) and female (case A:30). ( C) EMG showing myotonic activity exacerbated by needle movement from case A:30.
Figure 2.
Figure 2.. Case C as an infant demonstrating nasogastric tube required for feeding.
Figure 3.
Figure 3.. Frequency of G1306E cases experiencing stridor/laryngospasm and the requirement for hospitalisation.

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