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Functional Characterization of Endogenously Expressed Human RYR1 Variants

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Published on: June 9, 2021

Intranuclear rods myopathy with autonomic dysfunction.

Po-Ching Chou¹, Wen-Chen Liang, Ikuya Nonaka

¹Departments of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

Brain & Development

|October 30, 2012

Summary

Intranuclear rods myopathy (IRM), a severe condition, can involve autonomic dysfunction, affecting heart rate and blood pressure. Early recognition and treatment are crucial for managing these extramuscular symptoms in affected children.

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Area of Science:

Neurology
Genetics
Cardiology

Background:

Intranuclear rods myopathy (IRM) is a severe variant of nemaline myopathy (NM) with similar symptoms but poorer outcomes.
Extramuscular manifestations are known in NM, but autonomic dysfunction has not been previously reported.

Observation:

A 2-year-old girl with IRM and an ACTA1 mutation (c.430C>T) presented with severe diaphoresis and facial flushing.
The patient experienced episodes of arrhythmia and hypertension, triggered by feeding, defecation, and urination.

Findings:

This case highlights the potential for autonomic dysfunction in IRM.
The patient showed some response to sympathetic antagonist medication.

Implications:

This report expands the known clinical spectrum of IRM.
Clinicians should consider autonomic dysfunction in IRM and other actinopathies, necessitating appropriate management.