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autosomal recessive distal titinopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive distal titinopathy

MONDO:0100495

Also known as:distal titinopathy

Overview

A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.

ResearchLimited published research (8 articles)

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 autosomal recessive distal titinopathy.

8 publications have been identified in PubMed for autosomal recessive distal titinopathy. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (38%), and Review / Meta-Analysis (13%).

Recent Publications

Cesaroni CA (2026). [PMID: 42123284](https://pubmed.ncbi.nlm.nih.gov/42123284/). *J Clin Med*. [Case Report / Case Series]
Sian V (2025). [PMID: 41246854](https://pubmed.ncbi.nlm.nih.gov/41246854/). *European journal of neurology*. [Basic Science / Preclinical]
Alghamdi OA (2025). [PMID: 40487049](https://pubmed.ncbi.nlm.nih.gov/40487049/). *International medical case reports journal*. [Case Report / Case Series]
Haliloğlu G (2025). [PMID: 40356365](https://pubmed.ncbi.nlm.nih.gov/40356365/). *Journal of neuromuscular diseases*. [Epidemiology / Natural History]
Khadilkar SV (2025). [PMID: 41099380](https://pubmed.ncbi.nlm.nih.gov/41099380/). *Ann Indian Acad Neurol*. [Review / Meta-Analysis]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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autosomal recessive distal titinopathy

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team