Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2x C5568138
A genetic muscle disorder causing progressive weakness in shoulder and hip muscles. Inherited when both parents carry the gene. Treatment focuses on physical therapy and supportive care to maintain mobility.
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
Chest discomfort
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proximal muscle weakness in shoulders
(musculoskeletal)Difficulty rising from seated position
(musculoskeletal)Scapular winging
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Gentle Strengthening Program
Carefully supervised strengthening exercises focusing on proximal muscles to maintain functional abilities, using low resistance and high repetitions to avoid muscle damage.
Pulmonary Assessment Protocol
Regular monitoring of respiratory function through spirometry and overnight studies to identify early respiratory muscle involvement requiring intervention.
Additional treatment options
Home Modification Assessment
Evaluation and adaptation of home environment including grab bars, ramps, and stairlifts to enhance safety and independence as mobility decreases.
lifestyleOrthopedic Intervention Planning
Surgical consultation for scoliosis management, tendon transfers, or joint stabilization when skeletal complications arise from progressive weakness.
procedureCognitive-Behavioral Therapy
Individualized psychological support addressing anxiety, depression, and adjustment issues common with progressive neuromuscular conditions, incorporating acceptance-based strategies.
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 2x C5568138?
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. Care standards for limbgirdle muscular dystrophy. Neuromuscular Disorders. 2019.
Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies. Expert Opinion on Orphan Drugs. 2018.
Wang L, Chen M, Li J. Clinical phenotype and genetic analysis of LGMD2B/Dysferlin deficiency. Muscle Nerve. 2021.
Moretti R, Turco M, Romano G. Advances in molecular therapies for muscular dystrophies. Journal of Clinical Medicine. 2022.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2x C5568138. 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