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Severe autosomal recessive rippling muscle disease
R L Koul1, R P Chand, A Chacko
1Department of Pediatric Neurology, Sultan Qaboos University Hospital, Muscat, Oman.
Abstract:
Rippling muscle disease (RMD) has previously been reported as a skeletal myopathy that was attributed to a defect in the sarcomere. Here we report a new form of RMD that is more severe, characterized by fatal arrhythmic cardiomyopathy and delayed bone age. Mortality has previously not been associated with RMD. With this report we hope to raise awareness that a subset of patients with this clinical entity are predisposed to severe cardiac disease.
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.