Autosomal Recessive Limb Girdle Muscular Dystrophy Type R18 C4517996
A genetic muscle disease causing progressive weakness in limb muscles. Inherited in an autosomal recessive pattern. Treatment includes physical therapy and supportive care to preserve function.
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 lower extremity weakness
(musculoskeletal)Gait abnormality
(musculoskeletal)Calf pseudohypertrophy
(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
Physical and Occupational Therapy
Comprehensive therapy program focusing on maintaining muscle strength, flexibility, and functional independence through targeted exercises and adaptive techniques.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Corticosteroid Therapy
Long-term corticosteroid treatment may help slow disease progression by reducing inflammation and preserving muscle function in some patients.
Additional treatment options
Cardiac and Respiratory Monitoring
Regular cardiac evaluations including echocardiograms and pulmonary function tests to monitor for cardiomyopathy and respiratory muscle weakness.
monitoringOrthopedic Intervention
Surgical procedures to correct severe contractures, scoliosis, or other skeletal deformities that impair mobility or cause pain.
surgicalAssistive Devices and Home Modifications
Use of mobility aids such as walkers, wheelchairs, and home accessibility modifications to maintain independence and safety.
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 R18 C4517996?
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. Diagnosis and management of limb girdle muscular dystrophies: EFNS guidelines on the treatment of muscular dystrophies. Eur J Neurol. 2022.
Nigro V, Savarese M, Piluso G. The genetic basis of limb-girdle muscular dystrophies: the update on the new forms. Neuromuscul Disord. 2021.
Möhler H, Schoser B, Jensen NM. Gene therapy approaches for limb girdle muscular dystrophy type R18: a phase I/II clinical trial. Mol Ther. 2023.
Wangler MF, Bauxbaum JK, Wahjudi R. Phenotypic spectrum and natural history of calpainopathy: systematic review and meta-analysis. Orphanet J Rare Dis. 2020.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type R18 C4517996. 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