Duchenne Muscular Dystrophy Flashcards
1
Q
What is DMD?
A
- A progressive neuromuscular degenerative disorder
- Symptoms show once fat and connective tissue begin to replace muscle destroyed by the disease process
2
Q
What causes DMD?
A
Mutation of the dystrophin gene
3
Q
Who is subject to having DMD?
A
- Males, since the mutation is recessive and only on the X chromosome
- Females are carriers
4
Q
Clinical presentation for DMD
A
- 2-5 y/o
- Waddling gait
- Proximal muscle weakness
- Clumsiness
- Toe walking
- Excecssive lordosis
- Pseudohypertrophy of the calf
- Difficulty climbing the stairs
5
Q
Which muscle groups are typically affected by DMD?
A
Shoulder girdle, pecs, deltoids, rectus abdominis, glutes, hamstrings, and calves
6
Q
What sign is typically associated w/ DMD?
A
Gower’s maneuver (hands stabilize during getting up from the floor)
7
Q
What fraction of patients have some form of learning disability?
A
1/3
8
Q
Labs/imaging w/ DMD
A
- EMG
- Muscle biopsy to test for muscle protein
- DNA testing to confirm diagnosis
9
Q
Pharmacological management of DMD
A
Glucocorticoids and immunosuppressants
10
Q
Goal of PT intervention
A
- Help young child w/ progressing through early milestones
- Maintain available strength, encourage mobility, adapt to loss of function, promote family involvement
- MMT and ROM
- Orthotics and WC prescription
- Respiratory care
11
Q
What does the course of DMD look like?
A
- Progresses rapidly
- Affects cardiac muscle in later stages
- Life expectancy typically in the teens, sometimes into 20s
12
Q
What is the most common cause of death w/ DMD?
A
Cardiopulmonary complications due to cardiac muscle or respiratory dysfunction
