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

autosomal recessive titinopathy

Rare Disease

MONDO:0100493

Also known as:

TTN-related myopathy, autosomal recessive

Autosomal recessive 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

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Last reviewed: Feb 2026

Evidence base: Early

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

Overview

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

Symptoms & Signs

This condition is classified as an autosomal recessive form of TTN-related myopathy. There are currently no orphan drug designations under investigation for this disease.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries may provide additional resources and support. Finding specialists experienced with myopathies could also be beneficial.

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?

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

Overview

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

Symptoms & Signs

This condition is classified as an autosomal recessive form of TTN-related myopathy. There are currently no orphan drug designations under investigation for this disease.

Prognosis & Outlook

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?

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

Symptoms & Signs

This condition is classified as an autosomal recessive form of TTN-related myopathy. There are currently no orphan drug designations under investigation for this disease.

Prognosis & Outlook

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 recessive titinopathy

Patient-Friendly Information

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

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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