How rare is Bethlem myopathy?

Bethlem myopathy is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Bethlem myopathy diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Bethlem myopathy?

Information about treatment is currently limited for this condition.

What complications can arise from Bethlem myopathy?

Bethlem myopathy can lead to complications such as increased muscle weakness and joint stiffness over time. This can make it harder to perform everyday activities like walking or using your hands. As the condition progresses, some people may also experience difficulty with balance and coordination.

How does Bethlem myopathy affect daily life?

Living with Bethlem myopathy can be challenging due to muscle weakness and joint stiffness. These symptoms may make it difficult to do things like grip objects or bend your joints. Many people find that they need to adapt their daily routines and may benefit from physical therapy to help maintain mobility.

What is the life expectancy for someone with Bethlem myopathy?

Currently, there is limited information about the life expectancy of individuals with Bethlem myopathy. However, since it is a progressive condition, the focus is often on managing symptoms and maintaining quality of life. Regular check-ups with healthcare providers can help monitor the condition.

Should I see a specialist for Bethlem myopathy?

Yes, seeing a specialist can be very helpful for managing Bethlem myopathy. A neurologist or a geneticist can provide guidance on the condition and help with any specific concerns. They can also recommend therapies that may improve mobility and quality of life.

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Bethlem myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Bethlem myopathy

MONDO:0008029

Also known as:Bethlem myopathy type 1benign autosomal dominant myopathybenign congenital muscular dystrophy

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Overview

A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.

OnsetCONGENITAL, INFANTILE, CHILDHOOD

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: at birth, infancy, childhood.

GeneReviews

Clinical Guidance

The phenotypes associated with collagen VI-related dystrophies (COL6-RDs), once thought to be distinct entities, were clinically defined long before their molecular basis was discovered. The COL6-RDs are now recognized to comprise a continuum of overlapping phenotypes with Bethlem muscular dystrophy at the mild end, Ullrich congenital muscular dystrophy (UCMD) at the severe end, and phenotypes in between that are now collectively categorized within a subgroup called intermediate COL6-RD. These clinical phenotypic designations play an important role in providing a prognosis for future motor and pulmonary function and thus help in improving anticipatory clinical care.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria for collagen VI-related dystrophies (COL6-RDs) have not been established. The COL6-RDs are caused by a pathogenic variant(s) in COL6A1, COL6A2, or COL6A3 and represent a clinical spectrum including Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and intermediate COL6-RD, between Bethlem muscular dystrophy and UCMD. Note: Although these phenotypes are now recognized to comprise a continuum of overlapping phenotypes, the clinical designations are useful for providing a prognosis of future motor and pulmonary function and thus help to improve anticipatory clinical care.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Bethlem myopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

Bethlem muscular dystrophy. To establish the extent of disease and needs in an individual diagnosed with Bethlem muscular dystrophy, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Bethlem Muscular Dystrophy

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Bethlem muscular dystrophy

Respiratory function surveillance is of utmost importance, since unrecognized respiratory insufficiency is a leading cause of morbidity and mortality. Pulmonary function tests (PFTs) should be performed in both the upright (seated) and supine (lying down) positions at least annually to monitor the FVC. For FVC measurements of 60% predicted or lower, NIV in the form of BiPAP should be planned for and initiated during a polysomnogram – with pressures adjusted while CO2 is monitored – in order to ensure that BiPAP pressures provide adequate ventilation.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

26 publications have been identified in PubMed for Bethlem myopathy. Research spans Case Report / Case Series (62%), Epidemiology / Natural History (15%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	16	62%

Data assembled from 5 of 12 sources · Last updated Oct 4, 2026, 12:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:610

GARD

Genetic and Rare Diseases Info Center

GARD:873

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Bethlem myopathy

Bethlem myopathy is an inherited movement disorder that is usually passed down in an autosomal dominant pattern. It is caused by mutations in genes that affect muscle structure and function. People with this condition often experience gradual muscle weakness and joint stiffness, particularly affecting the fingers, wrists, elbows, and ankles. This can lead to challenges with movement and flexibility over time.

Common symptoms include progressive muscle weakness and stiffness in the joints, specifically in the fingers, wrists, elbows, and ankles. These symptoms can affect daily activities and mobility as the condition develops.

Bethlem myopathy is caused by genetic mutations. It is most often inherited in an autosomal dominant manner, meaning that a change in one copy of the gene can lead to the condition. The disorder is linked to mutations in genes responsible for the structure of muscle tissues. Associated genes include COL6A2, COL6A1, COL12A1, COL6A3.

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Latest News & Developments

1 recent

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AI-curated news mentioning Bethlem myopathy

Updated Aug 25, 2026

Gene & Cell Therapy•

Pipeline & Approvals

•about 1 month ago(Aug 25)

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor

The FDA approved Genglycos (pariglasgene brecaparvovec-opnr) to reduce daily cornstarch intake in patients aged 8 years and older with glycogen storage disease type Ia. Known as Von Gierke disease, GSDIa is a rare metabolic disorder caused by a mutation in the G6PC gene. This genetic variation leads to a deficiency in glucose-6-phosphatase (G6Pase), an enzyme needed to release glucose into the bloodstream. Without this enzyme, the body cannot properly maintain blood glucose levels, causing severe hypoglycemia and other serious metabolic complications · Pariglasgene brecaparvovec is an adeno-associated virus (AAV) serotype 8 based gene therapy that delivers a functional copy of the G6PC gene into liver cells, enabling the production of normally functioning G6Pase. Ultragenyx stated that as part of its postmarketing commitments to the FDA, the Company will provide 2 years of clinical data from open-label commercial treatment of 50 patients and 20 control patients through its existing GSDIa Disease Monitoring Program. ... Ultragenyx announces US FDA approval of Genglycos™ gene therapy, the first-ever FDA-approved treatment designed to treat the underlying cause of glycogen storage disease type Ia (GSDIa). “The reduced reliance on cornstarch, experienced by patients in our clinical studies, demonstrates this gene therapy’s ability to establish the normal breakdown of glycogen to produce glucose during fasting or episodes of metabolic stress. This ability to regulate glucose has alleviated the disease burden and has the potential to mitigate the risk of severe or life-threatening hypoglycemia for these patients.” Close more info about First Gene Therapy Approved for Glycogen Storage Disease Type la

View all news for Bethlem myopathy

Kisho

Bethlem myopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Bethlem Muscular Dystrophy

Differential Diagnosis

Bethlem Muscular Dystrophy

Musculoskeletal

Pulmonary

Cardiology

Other

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor

Bethlem myopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Bethlem myopathy?

What are the symptoms of Bethlem myopathy?

What causes Bethlem myopathy?

How rare is Bethlem myopathy?

How is Bethlem myopathy diagnosed?

Are there treatments for Bethlem myopathy?

What complications can arise from Bethlem myopathy?

How does Bethlem myopathy affect daily life?

What is the life expectancy for someone with Bethlem myopathy?

Should I see a specialist for Bethlem myopathy?

Bethlem Muscular Dystrophy

Differential Diagnosis

Bethlem Muscular Dystrophy

Musculoskeletal

Pulmonary

Cardiology

Other

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor