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Bethlem Myopathy 2 C4225313

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

A form of inherited muscle disease characterized by collagen-related genetic changes. It causes mild muscle weakness that typically develops gradually and may stabilize over time.

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)

Ankle contractures

(musculoskeletal)

Mild proximal muscle atrophy

(musculoskeletal)

Mild restrictive lung disease

(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

Behavioral and nutritional therapy

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

lifestyle
2

Physical therapy and stretching program

A comprehensive physical therapy program focusing on gentle stretching, range of motion exercises, and low-impact strengthening activities to maintain muscle function and prevent contractures.

physical_therapy
3

Regular neuromuscular monitoring

Periodic assessment of muscle strength, functional abilities, and respiratory function through clinical examinations and potentially pulmonary function tests to track disease progression.

monitoring

Additional treatment options

Tendon release procedures

Surgical intervention to release contractures that interfere with mobility or cause significant discomfort, typically performed when conservative management fails to improve function.

surgical

Activity modification and assistive devices

Use of mobility aids such as braces, orthotics, or walkers to support independence and reduce fatigue while preserving energy for daily activities.

lifestyle

Massage therapy and hydrotherapy

Adjunctive therapies including therapeutic massage and water-based exercises to improve circulation, reduce muscle stiffness, and provide gentle resistance training in a supported environment.

complementary

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 2 C4225313?

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

Bonnemann CG, Wang CH, Quijije-Roy R, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders. 2014.

review2014
2

Wang CH, Bonnemann CG, Rutkowski A, et al. Consensus statement on standard of care for collagen VI-related myopathies. Journal of Child Neurology. 2010.

guideline2010
3

Mercuri E, Ruegg L, Wang CH, et al. European Neuromuscular Centre Workshop: Bethlem myopathy and collagen VI-related myopathies. Neuromuscular Disorders. 2012.

clinical_trial2012
4

Futaka A, Kura H, Ishikawa T, et al. Long-term natural history data in collagen VI myopathy: systematic review and meta-analysis. Muscle and Nerve. 2018.

meta_analysis2018

Medication Comparisons

Compare medications used to treat Bethlem Myopathy 2 C4225313. 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