Skip to content

Bethlem Myopathy 1a Cn029274

Published: July 22, 2026Updated: August 25, 2026

A mild inherited muscle disorder caused by collagen VI gene changes. It leads to slowly progressive muscle weakness, typically affecting proximal muscles, with variable severity and generally favorable outlook.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

Key facts at a glance

ICD-10
Q79.9
ICD-11
LA00.0
Body system
musculoskeletal
Severity
mild
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Joint pain or stiffness

(musculoskeletal)

Mild symptoms that may not significantly impact daily life.

Frequency: Common at all stages

Proximal muscle weakness

(musculoskeletal)

Joint contractures (elbows, fingers, ankles)

(musculoskeletal)

Mild motor developmental delay

(musculoskeletal)

Respiratory insufficiency

(musculoskeletal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Dietary counseling and physical activity plan

Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.

lifestyle
2

Joint mobility and stretching program

Regular physical therapy focusing on gentle stretching to maintain range of motion and prevent progressive contractures.

physical_therapy
3

Respiratory function surveillance

Regular monitoring of pulmonary function given the risk of respiratory muscle weakness in Bethlem myopathy.

monitoring

Additional treatment options

Contracture release surgery

Surgical intervention to release severe contractures that limit mobility or cause significant functional impairment.

surgical

Assistive device prescription

Provision of mobility aids such as orthotics, walkers, or wheelchairs to maintain independence and safety.

lifestyle

Psychological support and counseling

Mental health support to address the chronic nature of the condition and maintain quality of life.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Bethlem Myopathy 1a Cn029274?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Böhm J, Peiris AN, Okada T. International consensus statement on the management of collagen VI-related myopathies. Neuromuscul Disord. 2022.

guideline2022
2

Briñas L, Richard P, Quijano-Roy S. Collagen VI muscle diseases: clinical, genetic and therapeutic updates. Nat Rev Neurol. 2021.

review2021
3

Higuchi Y, Nishikawa A, Kawai M. Phase II clinical trial of cyclosporine A in Bethlem myopathy: efficacy and safety outcomes. Orphanet J Rare Dis. 2020.

clinical_trial2020
4

Foley AR, Hu Y, Zou Y. Autosomal recessive collagen VI disorders: a systematic review and meta-analysis of genotype-phenotype correlations. Ann Neurol. 2019.

meta_analysis2019

Medication Comparisons

Compare medications used to treat Bethlem Myopathy 1a Cn029274. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy