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congenital muscular dystrophy with hyperlaxity (CMDH) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital muscular dystrophy with hyperlaxity

MONDO:0018281

Also known as:CMDH

Overview

Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.

ResearchLimited published research (3 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 congenital muscular dystrophy with hyperlaxity.

3 publications have been identified in PubMed for congenital muscular dystrophy with hyperlaxity. Research spans Case Report / Case Series (100%).

Recent Publications

McCarty RM (2025). [PMID: 39923201](https://pubmed.ncbi.nlm.nih.gov/39923201/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Maiga AB (2024). [PMID: 39523858](https://pubmed.ncbi.nlm.nih.gov/39523858/). *Mol Genet Genomic Med*. [Case Report / Case Series]
İpek R (2024). [PMID: 39129837](https://pubmed.ncbi.nlm.nih.gov/39129837/). *Mol Syndromol*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:371007

GARD

Genetic and Rare Diseases Info Center

GARD:21600

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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congenital muscular dystrophy with hyperlaxity

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team