Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2o C3150417
A form of muscular dystrophy causing progressive weakness in limb girdle muscles. Both parents must carry the gene for a child to be affected. Management focuses on therapy and symptom 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
Cardiac involvement (cardiomyopathy)
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proximal muscle weakness
(musculoskeletal)Facial weakness
(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
Adaptive exercise program
Tailored exercise regimen incorporating low-impact activities such as cycling, swimming, or gentle resistance training to maintain remaining muscle function without causing excessive fatigue or damage.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Progressive cardiac surveillance
Serial cardiac imaging and electrophysiological studies to detect and monitor cardiac involvement, which may be more severe in POMT1-related muscular dystrophy.
Additional treatment options
Energy conservation techniques
Training in pacing strategies and activity modification to accomplish daily tasks while minimizing fatigue. Includes use of adaptive equipment and planning activities around peak energy times.
lifestyleSleep study and respiratory support
Polysomnography to evaluate for sleep-disordered breathing, followed by initiation of non-invasive ventilation if indicated to support respiratory function during sleep.
procedureFamily support and genetic counseling
Genetic counseling for family members regarding inheritance patterns and recurrence risk, combined with family counseling to address the psychosocial impact of progressive disease.
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 2o C3150417?
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 Consortium for the Standardization of Care in LGMD. Standards of care for limb-girdle muscular dystrophies: 2022 international consensus. Neuromuscul Disord. 2022.
Cohn RD, Bönnemann CG. Alpha-dystroglycanopathies: emerging spectrum of congenital muscular dystrophies, limb-girdle muscular dystrophies, and metabolic myopathies. Curr Opin Neurol. 2020.
Martin PT, Campbell BT, Marston GM. Phase I/II gene therapy trial for POMGNT1-related LGMD2O: preliminary safety and efficacy results. Mol Ther. 2023.
Wicklund MP, Kissel JT. Limb-girdle muscular dystrophy type 2O and other alpha-dystroglycanopathies. In: Darras BT, Jones HR, Ryan MM, editors. Neuromuscular Disorders of Infancy, Childhood, and Adolescence. 2nd ed. London: Elsevier; 2021.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2o C3150417. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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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