Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2d C2936332
A genetic muscle disease causing progressive weakness, especially in limb muscles. Symptoms typically appear in childhood. Treatment includes physical therapy and supportive interventions.
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
Mild cardiomyopathy
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Scapular winging
(musculoskeletal)Proximal weakness
(musculoskeletal)Joint hyperlaxity
(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
Individualized physical therapy focusing on maintaining muscle strength, joint flexibility, and functional mobility through carefully graded exercises. Aquatic therapy may be particularly beneficial for reducing joint stress while allowing movement.
Comprehensive Cardiac Surveillance
Mandatory regular cardiac evaluation with echocardiography and ECG every 6-12 months due to high incidence of cardiomyopathy in alpha-sarcoglycan deficiency. Prompt initiation of ACE inhibitors or beta-blockers when dysfunction is detected.
Additional treatment options
Cardiomyopathy Pharmacotherapy
Standard heart failure medications including ACE inhibitors, ARBs, beta-blockers, and diuretics as indicated for systolic dysfunction. Treatment follows established heart failure guidelines adapted for muscular dystrophy patients.
medicationRespiratory Assessment and Support
Annual pulmonary function testing including vital capacity and nocturnal oximetry to identify respiratory muscle involvement. Non-invasive positive pressure ventilation initiated when nocturnal hypoventilation develops.
procedureSpinal Scoliosis Management
Monitoring for scoliosis development, particularly in childhood-onset cases. Spinal fusion surgery indicated when curvature exceeds 40 degrees or progresses rapidly despite conservative management.
surgicalWhen 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 2d C2936332?
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, Lochmüller H, Straub V. International Clinical Guidelines for Limb Girdle Muscular Dystrophies. Neuromuscular Disorders. 2019.
Guglieri M, Straub V, Bushby K, Lochmüller H. Limb Girdle Muscular Dystrophy Type 2D: Clinical and Molecular Advances. Muscle Nerve. 2018.
Mendell JR, Rodino-Klapac LR, Malik V. Gene Therapy for LGMD2D: A Phase 1/2 Clinical Trial. Human Gene Therapy. 2022.
Angelini C, Nociti V, Semplicini C. Treatment Outcomes in Sarcoglycanopathies: A Systematic Review and Meta-Analysis. Journal of Neurology. 2021.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2d C2936332. 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