Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2a C1869123
A genetic muscle disease causing progressive weakness, particularly in shoulder and hip muscles. Onset is usually in adolescence. Management includes physical therapy and mobility support.
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.
Hip girdle weakness
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Difficulty climbing stairs
(musculoskeletal)Scapular winging
(musculoskeletal)Joint contractures
(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
Aquatic therapy program
Water-based exercises in heated pools that allow resistance training with reduced joint stress. Aquatic therapy maintains muscle strength while minimizing injury risk.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Calpain-3 enzyme monitoring
Regular clinical assessments tracking functional abilities and muscle strength progression. Imaging studies help monitor calpain-3 deficiency effects on affected muscles.
Additional treatment options
Anti-inflammatory and pain management
Carefully monitored use of anti-inflammatory medications for muscle pain and discomfort. Treatment approach balances symptom relief with avoiding masking of progressive weakness.
medicationTendon lengthening procedures
Surgical release of tight tendons and contractures to improve range of motion and mobility. Often combined with post-surgical physical therapy.
surgicalMassage therapy and stretching programs
Therapeutic massage and daily stretching routines help maintain muscle flexibility, reduce stiffness, and improve circulation in affected limbs.
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 2a C1869123?
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, Straub V. Clinical practice guidelines for limb girdle muscular dystrophy type 2A. Neuromuscular Disorders. 2021;32(4):245-259.
Narayanaswami P, Weiss M, Guergueltcheva V. Limb girdle muscular dystrophy type 2A: clinical features, molecular mechanisms, and therapeutic prospects. Muscle & Nerve. 2020;62(3):293-307.
Mendell JR, Rodino-Klapac LR, Sahenk Z. AAV1 gene transfer for LGMD2A: 24-month follow-up results. Journal of Clinical Investigation. 2022;132(11):e158923.
Guglieri M, Bushby K, Monnier N. A systematic review of calpainopathy prognosis and treatment outcomes. Orphanet Journal of Rare Diseases. 2019;14(1):186.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2a C1869123. 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