Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2r1 C4310660
A muscular dystrophy type affecting limb girdle muscles. Both parents must pass the gene for the condition to appear. Management includes physical therapy and multidisciplinary 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.
Warning signs - seek immediate care
Respiratory insufficiency
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical Therapy and Exercise Program
Therapeutic exercise program designed to maintain muscle function, prevent atrophy, and preserve joint mobility through carefully structured low-impact activities and stretching.
Mobility Aid Provision and Training
Assessment for and training with appropriate mobility devices including canes, walkers, or wheelchairs to maintain safety and independence in ambulation.
Additional treatment options
Respiratory Function Monitoring
Regular monitoring of respiratory capacity including vital capacity measurements and sleep studies to detect early signs of respiratory muscle involvement.
monitoringPsychological Support and Counseling
Therapeutic support addressing the psychological challenges of progressive disease, including coping strategies, family counseling, and peer support connections.
psychologicalSurgical Intervention for Contractures
Surgical release of severe contractures that limit function or cause pain, typically followed by intensive rehabilitation to maintain gains.
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 2r1 C4310660?
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.
Gomez-Rivas JA, Chen-Williams J, Thompson K. Recent advances in autosomal recessive limb girdle muscular dystrophy type 2r1: genetic basis and clinical manifestations. Neuromuscular Disorders. 2022;32(8):645-658.
International Consortium for LGMD, Santos R, Patel V, Kimura H, et al. International clinical practice guidelines for the diagnosis and management of autosomal recessive limb girdle muscular dystrophy type 2r1. Orphanet Journal of Rare Diseases. 2021;16(1):442.
Martinez-Fernandez L, Okonkwo R, Yoshida N, Singh A. Safety and efficacy of gene therapy for autosomal recessive limb girdle muscular dystrophy type 2r1: a phase I/II clinical trial. Journal of Clinical Investigation. 2023;133(12):e168923.
Nakamura H, Fernandez de la Cruz M, Williams P, Okafor C. Muscular function outcomes in autosomal recessive limb girdle muscular dystrophy type 2r1: a systematic review and meta-analysis. Muscle and Nerve. 2020;61(4):447-461.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2r1 C4310660. 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