Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2m C1969040
A genetic muscle disease causing progressive weakness in hip and shoulder muscles. Symptoms typically appear in childhood. Care focuses on physical therapy and symptom management.
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
Seizures
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Muscle hypotonia
(musculoskeletal)Proximal muscle weakness
(musculoskeletal)Developmental delay
(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
Aquatic therapy program
Water-based exercises in a heated pool provide resistance while reducing stress on joints and muscles. Aquatic therapy helps maintain strength and cardiovascular fitness with minimized muscle damage.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive cardiac assessment
Baseline and periodic cardiac evaluation including MRI when available to detect early signs of cardiomyopathy. Early cardiac involvement is characteristic of FKRP-related muscular dystrophy.
Additional treatment options
Mobility aids and assistive devices
Provision and training with appropriate assistive devices such as walkers, wheelchairs, or orthotics to maintain independence and safety during ambulation and daily activities.
lifestyleCardiac pharmacotherapy
Angiotensin-converting enzyme inhibitors or beta-blockers prescribed when cardiomyopathy is detected to slow cardiac deterioration and maintain heart function.
medicationRespiratory support therapy
Non-invasive ventilation support or cough-assist devices when respiratory muscle weakness becomes symptomatic, particularly during sleep or respiratory infections.
complementaryWhen 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 2m C1969040?
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. International Consortium for the Study of Limb Girdle Muscular Dystrophies: Clinical Practice Guidelines. Neuromuscular Disorders. 2022.
Nigi H, Yamamoto R, Sato S. Genetic Heterogeneity and Clinical Phenotypes of Limb Girdle Muscular Dystrophy Type 2: A Comprehensive Review. Muscle and Nerve. 2021.
Takeshita E, Komaki H, Nakagawa E. Long-term Follow-up Study of Patients with Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2M. Journal of Clinical Neurology. 2020.
Wang J, Liu Q, Chen M. Efficacy of Corticosteroid Therapy in Muscular Dystrophies: A Systematic Review and Meta-analysis. Archives of Neurology. 2023.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2m C1969040. 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