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muscular dystrophy, cardiac type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

muscular dystrophy, cardiac type

MONDO:0010675

Overview

GeneticsX-linked

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: Abnormal heart rhythm on EKG (abnormal ekg), Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Carnosinuria, and Progressive muscle deterioration (muscular dystrophy) and 1 more.

Organ System	Phenotype Count	Example Features
Lab test results	2	Abnormal heart rhythm on EKG (abnormal ekg), Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)

Diagnosis

Biomarker and diagnostic research for muscular dystrophy, cardiac type 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 muscular dystrophy, cardiac type.

147 publications have been identified in PubMed for muscular dystrophy, cardiac type. Research spans Basic Science / Preclinical (45%), Epidemiology / Natural History (14%), and Gene Therapy / Novel Therapeutics (12%).

Research Type	Count	% of Total
Laboratory research	66	45%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:309930

Questions for Your Care Team

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Kisho

muscular dystrophy, cardiac type

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

muscular dystrophy, cardiac type

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications