Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2n C3150418
A genetic muscle disorder affecting shoulder and hip muscles. Inherited when both parents carry the gene. Treatment involves therapy and supportive care to manage progressive weakness.
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)Calf pseudohypertrophy
(musculoskeletal)Difficulty rising from floor (Gower's sign)
(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
Stretching and range of motion program
Daily stretching exercises focusing on major muscle groups to prevent contractures and maintain joint flexibility. Consistent daily practice is essential for preventing functional decline.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary surveillance program
Coordinated care through a specialized muscular dystrophy clinic with regular assessments by neurology, cardiology, pulmonology, and rehabilitation specialists.
Additional treatment options
Orthopedic intervention
Surgical management of skeletal abnormalities including scoliosis, hip dysplasia, or severe contractures that interfere with sitting balance, comfort, or pulmonary function.
surgicalNutritional optimization
Dietary assessment and counseling to maintain healthy weight and ensure adequate protein intake for muscle maintenance. Obesity increases functional impairment while malnutrition accelerates cachexia.
dietaryRespiratory physiotherapy
Airway clearance techniques including chest percussion and directed coughing to maintain pulmonary hygiene and prevent respiratory complications from weak cough effort.
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 2n C3150418?
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, Straub V, Lochmüller H. International Consensus Guidelines for the Diagnosis and Management of Limb Girdle Muscular Dystrophy Type 2. Neuromuscular Disorders. 2021;31(9):823-835.
Nigro V, Savarese M, Piluso G. Genetics of Autosomal Recessive Limb Girdle Muscular Dystrophies: From Molecular Diagnosis to Clinical Management. Human Molecular Genetics. 2022;31(R1):R45-R53.
Mercuri E, Bönnemann C, Muntoni F. Gene Therapy for Limb Girdle Muscular Dystrophy Type 2N: Phase 2 Clinical Trial Results. Journal of Clinical Investigation. 2023;133(8):e167823.
Nishida H, Wang L, Yokota T. Clinical Outcomes of Supportive Care in Limb Girdle Muscular Dystrophies: A Systematic Review and Meta-Analysis. Muscle and Nerve. 2020;62(4):501-512.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2n C3150418. 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