autosomal recessive limb-girdle muscular dystrophy - Symptoms, Causes & Research | Kisho | Kisho

autosomal recessive limb-girdle muscular dystrophy

Rare Disease

MONDO:0015152

Also known as:

autosomal recessive limb-girdle muscular dystrophylimb-girdle muscular dystrophy, autosomal recessivemuscular dystrophy, limb-girdle, autosomal recessive

Autosomal recessive form of limb-girdle muscular dystrophy.

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

10 genes

PLEC SNUPN SGCG POMGNT2 TOR1AIP1 POGLUT1 POMK POMT1 DAG1 DYSF

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

10 genes

PLEC SNUPN SGCG POMGNT2 TOR1AIP1 POGLUT1 POMK POMT1 DAG1 DYSF

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.(4 data sources · Data coverage: Limited)

Overview

Autosomal recessive limb-girdle muscular dystrophy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

Currently, there are no known associated genes, inheritance patterns, or documented symptoms for this condition. There are also no orphan drug designations under investigation at this time.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand potential hereditary aspects of this condition. Connecting with rare disease registries such as NORD or Orphanet may provide additional resources and support. Finding specialists experienced with muscular dystrophies can 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?

Clinical

Associated Genes

10 genes

PLEC SNUPN SGCG POMGNT2 TOR1AIP1 POGLUT1 POMK POMT1 DAG1 DYSF

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Support

External Resources

Orphanet

European rare disease database

Orphanet:102015

GARD

Genetic and Rare Diseases Info Center

GARD:19825

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

Companies Active in autosomal recessive limb-girdle muscular dystrophy

0 approved

Organizations with approved therapies for this disease

No approved therapies yet

Research is ongoing — 2 companies have orphan drug designations for this disease

Asklepios Biopharmaceutical, Inc.

Other

Designated

Cure Rare Disease

Other

Designated

View all companies active in autosomal recessive limb-girdle muscular dystrophy

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autosomal recessive limb-girdle muscular dystrophy

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

Companies Active in autosomal recessive limb-girdle muscular dystrophy

Need this data in your product?

Scientific Intelligence