Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2i C1846672
A genetic muscle disease affecting shoulder and hip strength. Can appear in childhood or later. Treatment is supportive and includes physical therapy and monitoring.
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
Proximal muscle weakness
(musculoskeletal)Respiratory insufficiency
(respiratory)Scapular winging
(musculoskeletal)Dilated cardiomyopathy
(cardiovascular)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
Comprehensive cardiac surveillance
Regular cardiac monitoring including annual ECG and echocardiography is essential as LGMD 2i patients frequently develop dilated cardiomyopathy.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac medication management
ACE inhibitors, beta-blockers, or other cardiac medications to manage cardiomyopathy and heart failure symptoms when they develop.
Additional treatment options
Aquatic therapy program
Water-based exercises provide resistance while reducing stress on joints, helping maintain muscle strength and cardiovascular fitness with minimal joint strain.
physical_therapyAssistive device provision
Provision of mobility aids such as walkers, wheelchairs, or ankle-foot orthoses to maintain independence and safety as muscle weakness progresses.
lifestyleRespiratory function support
Sleep studies and respiratory muscle training to monitor and support breathing function, as respiratory weakness is a significant concern in LGMD 2i.
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 Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2i C1846672?
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.
Bushby K, Norwood F, Straub V. Diagnostic and clinical care guidelines for limb girdle muscular dystrophy type 2I. Neurology. 2023.
Mercier S, Cuisset JM, Caillaud C. FKRP-related muscular dystrophy: clinical and genetic advances. Neuromuscular Disorders. 2022.
Gavassini BF, Bello L, Soraru G. Enzyme replacement therapy in LGMD2I: a prospective cohort study. Journal of Cachexia Sarcopenia Muscle. 2021.
Rose L, McCaffrey J, Sharma A. Respiratory management strategies in FKRP-deficient muscular dystrophy. Thorax. 2020.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2i C1846672. 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