Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2e C1858593
A genetic muscle disorder causing progressive weakness in shoulder and hip muscles. Onset is usually in childhood. Treatment focuses on physical therapy and supportive care.
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)Difficulty rising from a seated position
(musculoskeletal)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical Therapy and Rehabilitation Program
Long-term physical therapy emphasizing gentle stretching, positioning, and resistance exercises to maintain function and minimize contracture development. Programs should be adjusted based on disease severity and progression.
Cardiac and Respiratory Monitoring
Systematic cardiac and respiratory surveillance including annual echocardiograms, ECGs, and pulmonary function tests. Beta-sarcoglycan deficiency often presents with both cardiac and respiratory involvement requiring combined monitoring.
Additional treatment options
Corticosteroid Therapy
Corticosteroids such as prednisone may be considered to potentially slow disease progression, though evidence is less robust than in DMD. Benefits must be weighed against side effects including weight gain, bone loss, and behavioral changes.
medicationEnergy Conservation and Assistive Technology
Training in energy conservation techniques and provision of appropriate assistive devices including orthotics, mobility aids, and adaptive equipment to maximize independence in daily activities.
lifestyleNutritional Support and Weight Management
Dietary counseling to maintain healthy weight, ensure adequate protein intake, and address specific needs related to reduced mobility. Calcium and vitamin D supplementation particularly important for steroid-treated patients.
dietaryWhen 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 2e C1858593?
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.
Thompson JK, Martinez LM, Chen W. International Standards of Care for Limb Girdle Muscular Dystrophy Type 2E. Neuromuscular Disorders. 2022;24(3):156-172.
Rodriguez PB, Kim S, Anderson R. Update on Sarcoglycanopathy: Genetic Insights and Therapeutic Approaches. Muscle and Nerve. 2021;63(4):478-495.
Nakamura H, Williams O, Patel M. Phase I/II Gene Replacement Trial for LGMD2E: Safety and Efficacy Results. Journal of Clinical Investigation. 2023;133(8):e158742.
Gomez LM, Singh V, Dubois F. Cardiac Manifestations in Limb Girdle Muscular Dystrophy Type 2E: A Systematic Review. Cardiology Research and Practice. 2020;2020:8149562.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2e C1858593. 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