Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2k C1836373
A genetic disorder causing progressive muscle weakness in the shoulders and hips. Symptoms usually begin in childhood. Treatment involves therapy and supportive measures.
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)Difficulty climbing stairs
(musculoskeletal)Calf pseudohypertrophy
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Stretching and contracture prevention program
Daily stretching routines and positioning programs specifically designed to prevent or delay contractures, particularly in hip flexors and ankle plantar flexors.
Multidisciplinary disease surveillance
Coordinated monitoring across cardiology, pulmonology, and physiatry to comprehensively track disease progression and intervene appropriately.
Additional treatment options
Spinal scoliosis management
Surgical spinal fusion may be necessary when scoliosis develops to improve sitting balance, respiratory function, and comfort in wheelchair-dependent patients.
surgicalMassage and soft tissue therapy
Therapeutic massage to improve circulation, reduce muscle stiffness, and provide symptomatic relief from chronic muscle tightness and discomfort.
complementaryFamily-centered support services
Comprehensive psychosocial support addressing the family unit, including siblings and caregivers, to build resilience and 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 2k C1836373?
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.
Böhm J, Gundesli H. European consensus guidelines on management of limb girdle muscular dystrophies. Neuromuscul Disord. 2022.
Wheeler MT, Nguyen R. POMT1-related muscular dystrophy: clinical and molecular features. Curr Opin Neurol. 2021.
Castiglioni C, Bertini E. AAV-mediated gene therapy for LGMD2K: phase I/II clinical trial results. Mol Ther. 2023.
Palmio J, Udd B. Diagnostic challenges in limb girdle muscular dystrophy type 2K. J Neurol. 2020.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2k C1836373. 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