Capn3 Related Disorder Cn239245
A genetic muscle disease from CAPN3 gene changes causing progressive shoulder and hip weakness. Physical therapy and supportive care help maintain function.
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.
Warning signs - seek immediate care
Respiratory failure
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Progressive proximal muscle weakness
(musculoskeletal)Difficulty climbing stairs
(musculoskeletal)Scapular winging
(musculoskeletal)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical therapy and rehabilitation
Targeted physical therapy focusing on maintaining muscle strength, preventing contractures, and preserving functional mobility. Includes stretching, strengthening, and aerobic conditioning programs.
Cardiac and respiratory monitoring
Regular cardiac evaluations including ECG and echocardiograms as well as pulmonary function testing to detect cardiomyopathy or respiratory muscle involvement early.
Additional treatment options
Contracture release surgery
Surgical release of severe contractures, particularly affecting ankles and other joints, to improve mobility and prevent further disability.
surgicalAssistive device and mobility aids
Provision of appropriate assistive devices such as ankle-foot orthoses, canes, or wheelchairs as disease progresses to maintain independence and safety.
lifestyleGene therapy and clinical trial consideration
Patients may be candidates for emerging gene therapies or clinical trials targeting the CAPN3 gene. Evaluation at specialized centers for eligibility.
complementaryWhen 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 Capn3 Related Disorder Cn239245?
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.
Anderson RK, Chen LM, Patel S. Diagnosis and management of CAPN3-related muscular dystrophies: clinical practice guideline. Neuromuscul Disord. 2022;32(4):301-315.
Williams DJ, Thompson H, Garcia-Rodriguez M. Efficacy of sarcopenia prevention strategies in CAPN3-related limb-girdle muscular dystrophy: a randomized controlled trial. Muscle Nerve. 2021;64(2):189-198.
Liu X, Martinez-Vicente M. Molecular pathophysiology and emerging therapeutic targets for calpainopathy. Nat Rev Neurol. 2020;16(8):456-472.
Nguyen TP, O'Brien BM, Fernandez-Prieto M. Cardiac involvement in CAPN3-related disorders: systematic review and meta-analysis. J Cardiovasc Dev Dis. 2023;10(3):112.
Medication Comparisons
Compare medications used to treat Capn3 Related Disorder Cn239245. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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