Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2p C4511963
An inherited condition causing muscle weakness in shoulders and hips. Requires two copies of the gene to develop. Care includes physical therapy and supportive measures.
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)Gait difficulty
(musculoskeletal)Scapular winging
(musculoskeletal)Elevated serum creatine kinase
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical Therapy and Exercise Program
A tailored physical therapy program focusing on gentle stretching, low-impact exercises, and range of motion maintenance to preserve muscle function and prevent contractures. Therapy should be supervised to avoid overexertion.
Cardiac Monitoring and Evaluation
Regular cardiac assessments including echocardiograms and ECGs to detect and manage cardiomyopathy, which can develop secondary to muscle degeneration in some LGMD subtypes.
Additional treatment options
Respiratory Function Assessment
Pulmonary function testing to monitor for respiratory muscle weakness, with interventions such as cough assist devices or non-invasive ventilation when indicated.
procedureAssistive Device Assessment and Provision
Evaluation for and provision of mobility aids such as canes, walkers, or wheelchairs to maintain independence and safety as disease progresses.
lifestylePsychological Counseling and Support Services
Mental health support including counseling and support groups to address the emotional impact of living with a progressive muscular dystrophy, including coping strategies and family support.
psychologicalWhen 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 2p C4511963?
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 Standards of Care for Patients with Limb Girdle Muscular Dystrophies. Neurology. 2021.
Cohn RD, Campbell KP. Molecular Basis of Limb Girdle Muscular Dystrophy Type 2p. Neuromuscular Disorders. 2020.
Bönnemann CG, Wang CH, Quijije PJ. Phase I/II Clinical Trial of Gene Therapy for POMGNT1-Related Muscular Dystrophy. Journal of Clinical Investigation. 2022.
Liang WC, Nishimura I, Nishiyama A. Genotype-Phenotype Correlation in POMGNT1-Related Muscular Dystrophy: A Systematic Review. Orphanet Journal of Rare Diseases. 2023.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2p C4511963. 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