Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

titinopathy with congenital contractures - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

titinopathy with congenital contractures

MONDO:0100497

Overview

A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.

ResearchLimited published research (4 articles)

Diagnosis

Biomarker and diagnostic research for titinopathy with congenital contractures 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 titinopathy with congenital contractures.

4 publications have been identified in PubMed for titinopathy with congenital contractures. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Orbach R (2026). [PMID: 42135902](https://pubmed.ncbi.nlm.nih.gov/42135902/). *Ann Clin Transl Neurol*. [Diagnostic / Biomarker]
Haliloğlu G (2025). [PMID: 40356365](https://pubmed.ncbi.nlm.nih.gov/40356365/). *J Neuromuscul Dis*. [Review / Meta-Analysis]
Sian V (2025). [PMID: 41246854](https://pubmed.ncbi.nlm.nih.gov/41246854/). *Eur J Neurol*. [Basic Science / Preclinical]
Coppens S (2025). [PMID: 39853809](https://pubmed.ncbi.nlm.nih.gov/39853809/). *Ann Neurol*. [Case Report / Case Series]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

titinopathy with congenital contractures

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team