Duchenne Muscular Dystrophy Flashcards
1
Q
DMD
A
Duchenne Muscular Dystrophy
2
Q
DMD Profile
A
- males (x-linked disorder)
- 1:3500 male births
3
Q
DMD Pathophys
A
- disorder with missing or defective gene that is responsible for the production of dystrophin
- progressive Mm cell destruction
4
Q
Dystrophin
A
-structural muscle protein
5
Q
Diagnosis of DMD
A
- clinical presentation
- EMG
- Genetic tests
- lab studies (high serum creatine kinase levels
6
Q
Symptoms begin around age:
A
-2-5 years
7
Q
S/Sx of DMD
A
- reluctance to walk/run at typical ages
- falling
- difficulty getting off floor
- toe-walking
- clumsiness
- pseudohypertrophy of gastroc
- Mm weakness
- ROM restrictions
- postural impairments
8
Q
Mm Weakness due to
A
- pseudohypertrophy
- fatty deposits in muscle
9
Q
ROM Restrictions
A
-gastroc-soleus and TFL tighten first
10
Q
Standing posture
A
- lordosis
- scapular winging
- scoliosis
11
Q
____% don’t walk until ____ months
A
- 50%
- 18 months
12
Q
Average age of diagnosis
A
5 years
13
Q
Impairments, limitations, restrictions in infancy to preschool:
A
none
14
Q
S/Sx at diagnosis (at 5 years old)
A
- clumsiness
- falling
- inability to keep up with peers
- increased lateral trunk sway
- Gowers sign
15
Q
Impairments at 6-10 years)
A
- stair climbing
- standing from floor
- toe-walking
- progressive weakness
- compensated trendelenburg gait
- fatigue
- pulmonary impairment
