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Duchenne muscular dystrophy - Coggle Diagram
Duchenne muscular dystrophy
Genetic Basis
Mutation in Dystrophin Gene
Located on the X chromosome
Leads to absence or insufficient production of dystrophin protein
Inheritance
X-linked recessive pattern
Primarily affects males, females can be carriers
Pathophysiology
Role of Dystrophin
Stabilizes muscle cell membranes during contraction
Muscle Damage
Repeated cycles of muscle damage and repair
Replacement of muscle tissue with fat and connective tissue
Clinical Presentation
Early Symptoms
Delayed motor milestones
Gowers’ sign
Muscle weakness starting in the legs and pelvis
Progression
Loss of ambulation by age 12
Muscle weakness becomes more widespread
Cardiac and respiratory involvement
Diagnosis
Creatine Kinase (CK) Levels
Significantly elevated in blood
Genetic Testing
Confirms mutation in dystrophin gene
Muscle Biopsy
Reduced or absent dystrophin protein
Treatment Options
Corticosteroids
Delay muscle degeneration
Gene Therapy (Emerging)
Aims to introduce functional dystrophin gene
Supportive Therapies
Physical therapy
Occupational therapy
Management and Prognosis
Multidisciplinary Approach
Cardiology, pulmonology, orthopedics, and physical medicine
Respiratory Support
Non-invasive ventilation for respiratory muscle weakness
Cardiac Care
Monitoring and managing cardiomyopathy
Prognosis
Advances in care have improved life expectancy and quality of life