Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2f C1832525
A rare genetic condition that causes gradual muscle weakening, especially near the shoulders and hips. Symptoms often begin in childhood. Care includes therapy and mobility support.
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)Gowers sign
(musculoskeletal)Scapular winging
(musculoskeletal)Facial muscle 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 Rehabilitation
Structured physical therapy program focusing on preserving strength, preventing contractures, and maintaining functional abilities. Includes stretching, strengthening, and aerobic conditioning adapted to individual capabilities.
Multidisciplinary Cardiac-Respiratory Surveillance
Comprehensive monitoring program with annual cardiac evaluations and pulmonary function testing. Delta-sarcoglycanopathy requires vigilant monitoring for both cardiac and respiratory complications which may develop at different rates.
Additional treatment options
Nocturnal Respiratory Support
Initiation of non-invasive ventilation typically via BiPAP when nocturnal hypoventilation or significant restrictive lung disease develops. Polysomnography guides intervention timing and settings.
procedureOccupational Therapy Assessment
Comprehensive occupational therapy evaluation to assess activities of daily living, recommend adaptive equipment, and provide strategies for conserving energy while maintaining independence in self-care and household tasks.
complementaryOrthopedic Management of Contractures
Surgical intervention for progressive contractures, particularly affecting ankles, hips, and shoulders when conservative stretching and orthotic management fails to maintain function.
surgicalWhen 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 2f C1832525?
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. 223rd ENMC International Workshop: Limb-girdle muscular dystrophies - nomenclature and reformed classification. Neuromuscul Disord. 2018.
Nimori S, Noguchi S, Nishino I. Molecular genetics and clinical features of LGMD2F associated with CAPN3 gene mutations. J Neuromuscul Dis. 2022.
Mercier S, Toutain A, Rendu J, et al. Phenotypic spectrum of sarcoglycanopathies: a prospective study of 85 patients. Muscle Nerve. 2020.
Gao Q, McNally EM. The dystrophin complex: structure, function, and implications for therapy. Compr Physiol. 2021.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2f C1832525. 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