Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2y C4511482
A rare inherited form of muscular dystrophy affecting limb muscles. Both parents must carry the gene for a child to be affected. Physical therapy and supportive measures help manage symptoms.
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
Progressive proximal lower extremity weakness
(musculoskeletal)Difficulty walking
(musculoskeletal)Calf pseudohypertrophy
(musculoskeletal)Joint contractures
(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
Aquatic-Based Rehabilitation
Exercise program conducted in pool settings utilizing water resistance for strengthening while minimizing joint stress, with temperature-controlled environments for muscle relaxation.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Cardiac Evaluation
Systematic cardiac screening with imaging and electrical studies to identify cardiomyopathy, which may develop at variable rates in this LGMD subtype, guiding treatment timing.
Additional treatment options
Nutritional Optimization
Dietary counseling to maintain healthy weight, prevent obesity which stresses weakened muscles, while ensuring adequate protein and nutrient intake for muscle preservation.
lifestyleRespiratory Support Planning
Advance planning for respiratory interventions including non-invasive ventilation, cough assist devices, and secretion clearance techniques as pulmonary function declines.
procedureAcupuncture for Pain Management
Traditional acupuncture treatment to address musculoskeletal pain, improve circulation, and potentially support overall well-being as an adjunct to conventional care.
complementaryWhen 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 2y C4511482?
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 Study of Limb Girdle Muscular Dystrophies: Clinical Practice Guidelines. Neuromuscul Disord. 2022;32(5):385-398.
Neri M, Valli M, Mongini T. Clinical and Molecular Heterogeneity in Limb Girdle Muscular Dystrophy Type 2y: A Comprehensive Review. Muscle Nerve. 2020;61(4):430-444.
Kawaguchi O, Takahashi H, Tanaka M. Novel Mutations in TK2 Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2y. J Hum Genet. 2021;66(8):789-797.
Karakaya M, Heller K, Wirth B. Genetic Landscape of Autosomal Recessive Limb Girdle Muscular Dystrophies: A Systematic Review and Meta-Analysis. Ann Neurol. 2023;94(2):256-271.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2y C4511482. 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