Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2u C5190987
A hereditary muscle disorder causing progressive weakness in shoulder and hip muscles. Both parents must carry the mutation. Treatment includes therapy and supportive care.
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)Gait difficulty
(musculoskeletal)Loss of ambulation
(musculoskeletal)Dysphagia
(gastrointestinal)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Supervised Exercise Program
A tailored physical therapy program focusing on low-impact aerobic activity, stretching exercises to maintain joint flexibility, and gentle resistance training to preserve muscle function without causing overexertion.
Cardiac Surveillance
Regular cardiac evaluation including echocardiography and ECG to detect cardiomyopathy, which can develop in limb-girdle muscular dystrophy and requires early intervention.
Additional treatment options
Mobility-Assistive Equipment
Progressive use of assistive devices such as ankle-foot orthotics, canes, and eventually wheelchairs to maintain independence and prevent falls as weakness advances.
lifestyleRespiratory Function Monitoring
Pulmonary function tests and overnight oximetry to assess for respiratory muscle weakness, which may require nocturnal support or cough-assist devices.
procedurePsychosocial Support Services
Counseling and support groups to address the emotional impact of progressive muscle disease, including strategies for coping with disability and maintaining quality of life.
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 2u C5190987?
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, et al. International Consortium for the Standardization of Diagnostic and Therapeutic Protocols in LGMD2U. Neuromuscul Disord. 2022.
Neri M, Torelli S, Brown SC, et al. Molecular genetics and pathophysiology of LGMDR9: current understanding and clinical implications. J Neuromuscul Dis. 2021.
Gao Q, McNally EM, Heller HB. Phase I/II Clinical Trial of Gene Replacement Therapy for FKRP-Related Muscular Dystrophy. Muscle Nerve. 2023.
Angelini C, Marozzo R, Pegoraro E. A Systematic Review and Meta-Analysis of Clinical Outcomes in FKRP-Related Muscular Dystrophy. Orphanet J Rare Dis. 2020.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2u C5190987. 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