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rippling muscle disease 1 (RMD1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

rippling muscle disease 1

MONDO:0010868

Also known as:RMD1rippling muscle disease, 1

Overview

GeneticsAutosomal dominant

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Percussion-induced rapid rolling muscle contractions, Muscle mounding, Exercise-induced myalgia, and Skeletal muscle hypertrophy and 4 more.

Organ System	Phenotype Count	Example Features
Muscles	7	Percussion-induced rapid rolling muscle contractions, Muscle mounding, Exercise-induced myalgia

Diagnosis

Biomarker and diagnostic research for rippling muscle disease 1 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for rippling muscle disease 1.

8 publications have been identified in PubMed for rippling muscle disease 1. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Katirji B (2026). [PMID: 42124386](https://pubmed.ncbi.nlm.nih.gov/42124386/). *Muscle Nerve*. [Other]
Shen Y (2025). [PMID: 40695747](https://pubmed.ncbi.nlm.nih.gov/40695747/). *Neuropathology*. [Case Report / Case Series]
Zhong T (2025). [PMID: 40558300](https://pubmed.ncbi.nlm.nih.gov/40558300/). *Curr Oncol*. [Review / Meta-Analysis]
Babeliowsky WA (2025). [PMID: 40265716](https://pubmed.ncbi.nlm.nih.gov/40265716/). *Mov Disord Clin Pract*. [Diagnostic / Biomarker]
LaFrance-Corey RG (2025). [PMID: 39957412](https://pubmed.ncbi.nlm.nih.gov/39957412/). *Ann Clin Transl Neurol*. [Diagnostic / Biomarker]
Rashed HR (2025). [PMID: 39370631](https://pubmed.ncbi.nlm.nih.gov/39370631/). *Muscle Nerve*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600332

GARD

Genetic and Rare Diseases Info Center

GARD:9165

Questions for Your Care Team

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rippling muscle disease 1

Overview

Clinical Presentation

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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