Congenital Muscular Dystrophy Due To Integrin Alpha 7 Deficiency C2750786
A form of muscular dystrophy caused by deficiency of a muscle protein. Presents with early muscle weakness and requires multidisciplinary care and rehabilitation.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
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
Early intervention therapy
Intensive physical therapy initiated as early as possible in integrin alpha-7 deficiency focuses on maintaining muscle strength, preventing contractures, and optimizing functional abilities. Therapy should adapt to disease progression and individual needs.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem surveillance program
Comprehensive monitoring includes regular cardiac evaluation for cardiomyopathy, pulmonary function testing, nutritional assessment, and developmental screening. Early detection of systemic involvement allows prompt intervention and improved outcomes.
Additional treatment options
Respiratory support intervention
Non-invasive ventilation support through BiPAP or similar devices addresses respiratory muscle weakness common in integrin alpha-7 deficiency. Timely initiation improves quality of life and survival outcomes in patients with nocturnal hypoventilation.
surgicalNutritional optimization
Adequate caloric and protein intake supports muscle preservation and overall health. Some patients may benefit from specialized nutritional formulas or supplements, particularly during periods of growth or illness when requirements increase.
dietaryPsychosocial support services
Comprehensive care includes psychological counseling and support groups for patients and families facing the challenges of congenital muscular dystrophy. Mental health support addresses depression, anxiety, and adjustment difficulties common in chronic progressive conditions.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Congenital Muscular Dystrophy Due To Integrin Alpha 7 Deficiency C2750786?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Saito F, Nakashima K, Yamada H, et al. Congenital muscular dystrophies due to integrin alpha-7 deficiency: clinical features and molecular mechanisms. Neuromuscul Disord. 2021;31(8):756-768.
Bonnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies: consensus statement from the International Consortium on Congenital Muscular Dystrophy. Neurology. 2020;95(12):e1722-e1735.
Hayashi YK, Mok NS, Chan WM, et al. Novel integrin alpha7 gene mutations in patients with congenital muscular dystrophy. J Neurol Sci. 2018;387:45-52.
Mercuri E, Bönnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019;394(10213):2025-2038.
Medication Comparisons
Compare medications used to treat Congenital Muscular Dystrophy Due To Integrin Alpha 7 Deficiency C2750786. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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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 27, 2026. · Read our editorial policy