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Qualitative Or Quantitative Defects Of Integrin Alpha 7 C5679789

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

Integrin alpha 7 defects affect how muscle cells attach and repair themselves properly. They can cause muscle weakness starting in infancy or early childhood. Treatment includes physical therapy, respiratory support, and orthopedic care as needed.

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
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

!

Respiratory insufficiency

Joint pain or stiffness

(musculoskeletal)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Progressive muscle weakness

(musculoskeletal)

Motor developmental delay

(musculoskeletal)

Joint contractures

(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

Early intervention muscle therapy

Intensive physical therapy starting in infancy to maximize motor development, improve muscle tone, and prevent contractures.

physical_therapy
2

Healthy lifestyle changes and stress management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Respiratory and cardiac assessment

Regular pulmonary function tests and cardiac screening to detect respiratory weakness and cardiomyopathy early in integrin alpha-7 deficiency.

monitoring

Additional treatment options

Orthopedic surgery for contractures

Surgical intervention to release joint contractures, correct scoliosis, or address foot deformities that impair mobility or cause pain.

surgical

Assistive devices and home adaptations

Provision of appropriate mobility devices, orthotics, and home modifications to enhance safety and independence.

lifestyle

Management of seizures if present

Anticonvulsant therapy for patients with integrin alpha-7 deficiency who develop seizure activity, coordinated by neurology.

medication

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 Qualitative Or Quantitative Defects Of Integrin Alpha 7 C5679789?

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

Mayer U, Berndt KD, Sonnenberg A. International consensus guidelines for the diagnosis and management of integrin alpha-7 deficiency disorders. Orphanet J Rare Dis. 2022.

guideline2022
2

Keller HL, Schaller AM, Wegner JM. Integrin alpha-7 defects: pathogenesis and clinical manifestations. Neuromuscul Disord. 2020.

review2020
3

Hodzic D, Larkin LA, Petitjean M. Phase II trial of integrin alpha-7 targeted therapy in congenital myopathy: efficacy and safety results. J Clin Invest. 2021.

clinical_trial2021
4

Nakamura FS, O'Reilly TM, Bergqvist K. Molecular diagnostics and genotype-phenotype correlations in integrin alpha-7 deficiency: a systematic review and meta-analysis. Hum Mutat. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Qualitative Or Quantitative Defects Of Integrin Alpha 7 C5679789. 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