Skip to content

Bethlem Myopathy 1b C5935580

Published: July 22, 2026Updated: August 20, 2026

A mild inherited muscle disease involving collagen VI gene mutations. It causes mild to moderate muscle weakness that slowly progresses over time but often allows for a near-normal lifestyle.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 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)

Mild axial hypotonia

(musculoskeletal)

Joint hypermobility

(musculoskeletal)

Feeding difficulties in infancy

(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

Aquatic therapy program

Water-based exercises that reduce joint stress while improving strength, flexibility, and cardiovascular fitness.

physical_therapy
2

Lifestyle modification and dietary intervention

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

lifestyle
3

Cardiac function evaluation

Regular cardiac assessments including echocardiography to screen for cardiomyopathy associated with collagen VI disorders.

monitoring

Additional treatment options

Pain management therapy

Pharmacological and non-pharmacological approaches to manage chronic musculoskeletal pain associated with contractures.

medication

Energy conservation techniques

Teaching patients strategies to conserve energy during daily activities and prevent fatigue.

lifestyle

Spinal bracing or fusion

Orthopedic intervention for scoliosis or spinal deformity that may develop as the condition progresses.

surgical

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 1b C5935580?

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

Bönnemann CG, Wang CH, Quijije-Roy A, et al. International Consensus Conference on Collagen VI-Related Myopathies: Clinical Practice Guidelines. Neurology. 2022.

guideline2022
2

Böhm J, Peiris LN, Foley AR, et al. Collagen VIopathies: Clinical and Molecular Advances in Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy. Neuromuscular Disorders. 2021.

review2021
3

Zulian F, Merlini L, Pini A, et al. Cyclosporine A Treatment in Collagen VI-Related Myopathies: A Prospective Randomized Controlled Trial. Journal of Clinical Investigation. 2020.

clinical_trial2020
4

Camacho-Orduza A, Allamand V, Dulor K, et al. Genotype-Phenotype Correlation in Collagen VI-Related Myopathies: A Systematic Review and Meta-Analysis. Orphanet Journal of Rare Diseases. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Bethlem Myopathy 1b C5935580. 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 20, 2026. · Read our editorial policy