Related Experiment Video

Updated: Oct 3, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Severe autosomal recessive rippling muscle disease

R L Koul1, R P Chand, A Chacko

  • 1Department of Pediatric Neurology, Sultan Qaboos University Hospital, Muscat, Oman.

Muscle & Nerve
|December 18, 2001
PubMed

Insights

A new, severe form of Rippling Muscle Disease (RMD) presents with fatal heart rhythm problems and delayed bone age, unlike previously known RMD. This highlights a critical need to recognize cardiac risks in affected individuals.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Skeletal Muscle Physiology

Background:

  • Rippling Muscle Disease (RMD) is typically a skeletal myopathy linked to sarcomere dysfunction.
  • Previous RMD cases have not been associated with mortality.

Observation:

  • A novel, severe RMD variant is identified.
  • This variant presents with fatal arrhythmic cardiomyopathy and delayed bone age.

Findings:

  • The newly identified RMD form exhibits a more severe phenotype than previously described.
  • Cardiac involvement, specifically fatal arrhythmias, is a key feature of this RMD subset.

Implications:

  • This study raises awareness of severe cardiac complications in a subset of RMD patients.
  • Early recognition of cardiac predisposition in RMD is crucial for patient management and outcomes.

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