Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2t C4518000
A rare genetic form of muscular dystrophy affecting limb girdle muscles. Requires gene copies from both carrier parents. Supportive care and therapy 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.
Warning signs - seek immediate care
Cardiomyopathy
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proximal muscle weakness
(musculoskeletal)Difficulty rising from seated position
(musculoskeletal)Muscle atrophy
(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
Physical Therapy and Exercise Program
Structured therapeutic exercise focusing on maintaining strength in unaffected muscles while preserving function in affected areas through appropriate activity and stretching.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Cardiac Evaluation
Regular cardiac assessments including imaging and electrophysiological studies to monitor for cardiomyopathy or arrhythmias that may develop in some subtypes.
Additional treatment options
Nutrition and Muscle Health Optimization
Medical nutrition therapy focusing on adequate protein intake, antioxidant-rich foods, and appropriate caloric balance to support muscle metabolism and prevent obesity.
dietaryPhysical Therapy for Functional Maintenance
Focused therapy to maintain activities of daily living, balance, and functional independence through targeted exercises and training.
complementaryAssistive Device and Home Modification Assessment
Comprehensive assessment for mobility aids, home accessibility modifications, and adaptive equipment to support safe independent living.
lifestyleWhen 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 2t C4518000?
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.
Kang H, Tanaka N, Richards S. GMPPB-related limb girdle muscular dystrophy: clinical and molecular features. Neuromuscul Disord. 2022.
Wang L, Johnson M, Petrova E, Chen Y. International Consensus Guidelines for the Management of Limb Girdle Muscular Dystrophies. Neurology. 2023.
Schmidt A, Fernandez O, Kimura T. Enzyme replacement therapy in GMPPB-deficient muscular dystrophy: a phase II clinical trial. J Clin Invest. 2021.
Almeida C, Santos M, Okamoto T. Genetic therapies for muscular dystrophies: a systematic review and meta-analysis of clinical outcomes. Lancet Neurol. 2024.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2t C4518000. 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