How is Bethlem myopathy 1A inherited?

Bethlem myopathy 1A follows an autosomal recessive and autosomal dominant inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How is Bethlem myopathy 1A diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Bethlem myopathy 1A?

Information about treatment options and management approaches is currently limited for this condition.

What are the potential complications of Bethlem myopathy 1A?

The specific complications of Bethlem myopathy 1A are not well-documented. However, since it affects the muscles, individuals may experience muscle weakness and contractures, which can impact mobility and daily activities. It's important to monitor any changes in muscle function and seek support as needed.

How does Bethlem myopathy 1A affect daily life?

Bethlem myopathy 1A can impact daily life by causing muscle weakness and possibly limiting physical activities. People with this condition may need to adapt their routines to manage fatigue and muscle stiffness. Working with healthcare providers can help find ways to maintain independence and quality of life.

What is the life expectancy for someone with Bethlem myopathy 1A?

Information about life expectancy for individuals with Bethlem myopathy 1A is currently limited. Since this condition is considered a type of muscular dystrophy, it may vary widely among individuals. Regular check-ups with healthcare providers can help monitor health and address any concerns.

Should families consider genetic counseling for Bethlem myopathy 1A?

Yes, families may want to consider genetic counseling if they have a history of Bethlem myopathy 1A. Genetic counseling can provide information about the condition, its inheritance, and the chances of passing it on to future children. This support can help families make informed decisions about family planning.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Bethlem myopathy 1A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Bethlem myopathy 1A

MONDO:0024530

Also known as:Bethlem myopathy 1BTHLM1Bethlem myopathy

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive, Autosomal dominant · COL6A1 (chr 21)

OnsetCONGENITAL

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.

Features include always present findings: Difficulty climbing stairs, Fatty replacement of skeletal muscle, Fiber type grouping, and Macroscopic hematuria and others; and common findings: Distal muscle weakness, Ankle contracture, Finger joint contracture, and Difficulty running and others. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	21	Myopathy, Difficulty climbing stairs, Distal muscle weakness

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COL6A1 encodes collagen type VI alpha 1 chain (1,028 aa). Collagen VI acts as a cell-binding protein Highest expression in Cells Cultured fibroblasts (2,264 TPM) and Colon Sigmoid (1,973 TPM).

Bethlem myopathy 1A is associated with mutations in the COL6A1 gene on chromosome 21.

COL6A1 is classified as a druggable target (Druggable Genome category) with score 0.9.

GeneReviews

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 1A. 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.

31 publications have been identified in PubMed for Bethlem myopathy 1A. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Patient case studies	13	42%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:158810

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 1A

Bethlem myopathy 1A, also known by names such as Bethlem myopathy, BTHLM1, and benign congenital myopathy with contractures, is a rare condition affecting the muscles. While detailed definition information is not available, the condition is recognized as a type of muscular dystrophy that has been noted in scientific databases such as OMIM (OMIM:158810).

Information about symptoms is currently limited for this condition.

The cause of Bethlem myopathy 1A appears to be genetic. It has been associated with changes in the COL6A1 gene. More detailed explanations about the genetic mechanisms and risk factors are not available. Associated genes include COL6A1.

← Back to All Diseases

Kisho

Bethlem myopathy 1A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Bethlem Muscular Dystrophy

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Bethlem Muscular Dystrophy

Musculoskeletal

Pulmonary

Cardiology

Other

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA

Bethlem myopathy 1A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Bethlem myopathy 1A?

What are the symptoms of Bethlem myopathy 1A?

What causes Bethlem myopathy 1A?

How is Bethlem myopathy 1A inherited?

How is Bethlem myopathy 1A diagnosed?

Are there treatments for Bethlem myopathy 1A?

What are the potential complications of Bethlem myopathy 1A?

How does Bethlem myopathy 1A affect daily life?

What is the life expectancy for someone with Bethlem myopathy 1A?

Should families consider genetic counseling for Bethlem myopathy 1A?

Clinical Guidance

Bethlem Muscular Dystrophy

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Bethlem Muscular Dystrophy

Musculoskeletal

Pulmonary

Cardiology

Other

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA