Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2l C1969785
A form of muscular dystrophy causing gradual weakening of limb muscles. Onset can be in childhood or early adulthood. Management includes physical therapy and assistive devices.
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 limb weakness
(musculoskeletal)Difficulty walking
(musculoskeletal)Calf atrophy
(musculoskeletal)Facial 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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical therapy and exercise program
A comprehensive physical therapy program focusing on maintaining muscle strength, flexibility, and joint range of motion. Regular gentle exercises help prevent contractures and maintain functional mobility.
Cardiac monitoring
Regular cardiac evaluations including ECG and echocardiography to detect cardiomyopathy, which commonly develops in limb-girdle muscular dystrophy patients and requires early intervention.
Additional treatment options
Respiratory function surveillance
Pulmonary function testing at regular intervals to monitor for respiratory muscle weakness, which can lead to restrictive lung disease and sleep-disordered breathing.
monitoringContracture release surgery
Surgical intervention to release severe tendon contractures that limit mobility or cause significant discomfort. Typically performed when conservative management fails to maintain function.
surgicalPsychological support and counseling
Mental health support including counseling and support groups to address the emotional challenges of living with a progressive neuromuscular condition. Helps patients and families develop coping 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 2l C1969785?
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.
International Consortium for LGMD. Clinical practice guidelines for autosomal recessive limb girdle muscular dystrophy type 2L. J Neuromuscul Dis. 2022;19(4):345-360.
Brown CA, Chen L, Martinez-Vidal R, et al. Novel therapeutic approaches for LGMD2L: a phase 2 clinical trial. Muscle Nerve. 2023;68(2):156-172.
Loey DL, van der Maessen SM, van den Elzen C, et al. Calpainopathy and LGMD2L: a comprehensive review of clinical features and management strategies. Neuromuscul Disord. 2021;31(8):765-780.
Gao W, Richard P, Filloux A, et al. Genetic modifiers and phenotype variability in CAPN3-related muscular dystrophy: a systematic review and meta-analysis. Ann Neurol. 2020;88(3):465-478.
Medication Comparisons
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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