Duchenne Muscular Dystrophy (DMD) Flashcards
1
Q
Duchenne Muscular Dystrophy (DMD) Overview
A
- Progressive genetic condition which affects muscles causing muscle weakness
- Starts in early childhood, not noticeable at birth even tho child is born with the gene
- Muscle weakness develops gradually becoming evident between ages 3-6
- Primarily boys (because x-linked)
- Defect in single most important protein in muscle fibers called dystrophin
2
Q
Duchenne Muscular Dystrophy (DMD) Clinical Presentation
A
- Muscle weakness is mainly in proximal muscles (near trunk around hips and shoulders)
- Difficulty walking, running, jumping, climbing stairs
- Meryons Sign = may feel as though child slips through your hands as you pick them up
- Toe walking, frequent falls between 3-5 years of age
- Pseudohypertrophy = calf muscles look bulky although they are not strong
- Gowers Sign = weakness of thigh muscles causes pt to use hands to push on thighs and climb up thighs to achieve standing
- Delay in development, can have speech delay
- Some will have learning difficulties
- Contractures
- Lumbar lordosis
- Progressive enlargement of heart
3
Q
Duchenne-Muscular-Dystrophy (DMD) Prognosis
A
- No cure so aim of treatment is to control symptoms and improve QOL
- Most pts will become w/c dependent around 10-12 years of age and needs assisted ventilation around 20 years of age
4
Q
Duchenne-Muscular-Dystrophy (DMD) Management
A
- Assistive devices (walker, motorized w/c, hoists, standing frames, KAFOs)
- Steroids can increase muscle strength and functional treatment
- Beta-blockers because heart and respiratory function can slowly decline
- Surgery (foot surgery, feeding tube insertion, correct scoliosis)
- Address impairments such as strength, ROM, functional mobility, gait, respiratory function, spinal deformities, and adaptive equipment
