Overview

This report reflects available clinical information. Some areas may remain under active research.(4 data sources · Data coverage: Moderate)

Overview

Information about the overview of this condition is currently limited for this condition.

Symptoms & Signs

Information about the symptoms is currently limited for this condition.

Causes & Risk Factors

Bethlem myopathy 1B is linked to changes in the COL6A2 gene. This gene is involved in the production of collagen, which is important for muscle structure and function. While research has shown an association between COL6A2 and this condition, detailed explanations of how these genetic changes impact muscle function are currently limited.

Treatment & Management

Information about treatment options and management approaches for Bethlem myopathy 1B is currently limited for this condition.

Prognosis & Outlook

Information about the outlook and quality of life for people with Bethlem myopathy 1B is currently limited for this condition.

Research & Clinical Trials

Information about current research and future directions for Bethlem myopathy 1B is currently limited for this condition.

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

COL6A2

Gene data from HGNC • Click to view on NCBI Gene

Inheritance Pattern

Autosomal Dominant

Inheritance patterns describe how genetic conditions are passed from parents to children.

Treatment

Support

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620725

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Bethlem myopathy 1B

Patient-Friendly Information

Associated Genes

Inheritance Pattern

Associated Genes

Inheritance Pattern

Overview

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Inheritance Pattern

Treatment

Support

External Resources

OMIM

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Bethlem myopathy 1B

Patient-Friendly Information

Associated Genes

Inheritance Pattern

Associated Genes

Inheritance Pattern

Overview

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Inheritance Pattern

Treatment

Support

External Resources

OMIM

Related Diseases

Know a Patient Advocacy Group for this condition?

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