DISEASE SCANNER
Global Incurable Diseases Tracker
Limb-Girdle Muscular Dystrophy
A group of inherited muscular dystrophies affecting shoulder and pelvic girdle muscles. Multiple genetic subtypes with autosomal dominant (LGMD1) and recessive (LGMD2) inheritance. Variable age of onset and progression.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Highly variable by subtype. Some forms (LGMD2B, 2L) have slow progression with preserved ambulation into 60s-70s. Other forms (LGMD2C-F, sarcoglycanopathies) cause loss of ambulation in teens-20s. Cardiac involvement in some subtypes requires monitoring. Respiratory weakness develops in advanced stages. Non-invasive ventilation extends survival and quality of life. Corticosteroids benefit some dystrophin-associated forms. Regular cardiac and pulmonary monitoring essential.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Gene therapy trials for LGMD2I, LGMD2E, LGMD2C. Supportive care: physical therapy, respiratory support, cardiac management. No approved disease-modifying therapy yet. Clinical trials of AAV-mediated gene replacement ongoing.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.