autosomal dominant titinopathy - Symptoms, Causes & Research | Kisho | Kisho

autosomal dominant titinopathy

Rare Disease

MONDO:0100494

Also known as:

TTN-related myopathy, autosomal dominant

Autosomal dominant form of TTN-related myopathy.

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Early

Associated Genes

1 gene

TTN

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

1 gene

TTN

Gene data from HGNC • Click to view on NCBI Gene

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(2 data sources · Data coverage: Limited)

Overview

Autosomal dominant titinopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

This condition is associated with TTN-related myopathy and is inherited in an autosomal dominant manner. Currently, there are no orphan drugs under investigation for this condition. Specific symptoms and prevalence data are not available.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries and online patient communities may provide additional support and resources.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

1 gene

TTN

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Support

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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autosomal dominant titinopathy

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Support

Related Diseases

Know a Patient Advocacy Group for this condition?

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