Emery-Dreifuss muscular dystrophy 1, X-linked | Kisho | Kisho

Emery-Dreifuss muscular dystrophy 1, X-linked

Rare Disease

MONDO:0100531

Also known as:

EDMD1EMD1Emery-Dreifuss muscular dystrophy 1, X-linked

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: Developing

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

Overview

Emery-Dreifuss muscular dystrophy 1, X-linked is a rare neuromuscular condition that is known by several names, including EDMD1, humeroperoneal neuromuscular disease, and scapuloperoneal syndrome, among others. While a detailed definition is not available from the provided sources, the condition is recognized as a distinct type of muscular dystrophy with its own set of characteristics noted in medical literature such as OMIM (OMIM:310300).

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition is associated with changes in the EMD gene. More detailed information about the exact causes, genetic mechanisms, and risk factors is not provided by the available sources.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Information about research and future directions 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?

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

Overview

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition is associated with changes in the EMD gene. More detailed information about the exact causes, genetic mechanisms, and risk factors is not provided by the available sources.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Information about research and future directions 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?

Overview

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

Overview

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition is associated with changes in the EMD gene. More detailed information about the exact causes, genetic mechanisms, and risk factors is not provided by the available sources.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Information about research and future directions 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

EMD

Gene data from HGNC • Click to view on NCBI Gene

Inheritance Pattern

X_LINKED

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

Treatment

Support

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:310300

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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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Emery-Dreifuss muscular dystrophy 1, X-linked

Patient-Friendly Information

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

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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