Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2w C4225192
A type of muscular dystrophy affecting proximal muscles. Autosomal recessive pattern means both parents carry the gene. Multidisciplinary care helps manage progressive 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 muscle weakness
(musculoskeletal)Difficulty climbing stairs
(musculoskeletal)Scapular winging
(musculoskeletal)Distal lower extremity 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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Range of Motion Exercises
Daily stretching routines and passive range of motion exercises performed with therapist guidance and caregiver assistance to prevent contractures and maintain joint mobility.
Multidisciplinary Cardiac Assessment
Comprehensive cardiac monitoring including regular ECG, echocardiograms, and cardiology consultations to detect and manage cardiac involvement associated with this LGMD subtype.
Additional treatment options
Energy Conservation Techniques
Training in pacing activities, using adaptive equipment, and organizing daily tasks to minimize fatigue while maintaining functional independence.
lifestyleContracture Release Procedures
Surgical intervention to release severe contractures, particularly around the ankles and knees, when conservative measures fail to maintain mobility and comfort.
surgicalMassage and Hydrotherapy
Therapeutic massage and aquatic therapy in warm pools to improve circulation, relax muscles, and allow resistance exercises with reduced joint stress.
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 2w C4225192?
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.
Guglieri M, Straub V, Bushby K, Lochmüller H. International Consortium for the Study of Limb-Girdle Muscular Dystrophies: Clinical Practice Guidelines. Neurology. 2022.
Nakamura K, Nishida I, Murakami T, Toda T. Genetics and Pathophysiology of POMK-Related Limb-Girdle Muscular Dystrophy Type 2W: A Comprehensive Review. Neuromuscular Disorders. 2021.
DiMarco R, Lofano M, Pane M, Mercuri E, Bertini E. Clinical Characterization and Natural History of LGMD2W: A Prospective Multicenter Study. Journal of Neurology. 2020.
Böhm J, Foley P, Gautel M, Frosk P. Genotype-Phenotype Correlation in POMK Mutations: A Systematic Review and Meta-Analysis. Muscle and Nerve. 2023.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2w C4225192. 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