DISEASE SCANNER
Global Incurable Diseases Tracker
Congenital Muscular Dystrophy
A group of muscular dystrophies presenting at birth or early infancy with hypotonia, muscle weakness, and contractures. Multiple subtypes including merosin-deficient, Ullrich, and LMNA-related. Variable severity 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
Variable by subtype. Ullrich CMD: progressive, shortened lifespan. LMNA-related CMD: cardiac involvement common. Bethlem myopathy: milder, near normal lifespan. Respiratory failure major cause of mortality.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Supportive care: respiratory support, feeding assistance, physical therapy. Gene therapy trials for merosin-deficient CMD. No approved disease-modifying therapy. Multidisciplinary management essential. Prognosis varies by subtype.
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.