Neuromuscular Disorders & School Based PT Flashcards
Week 5 (41 cards)
What is the cause of Duchenne Muscular Dystrophy (DMD)?
X-linked recessive genetic disorder caused by mutations in the dystrophin gene.
What is the role of dystrophin in muscle function?
Dystrophin stabilizes muscle cell membranes; its absence leads to progressive muscle fiber degeneration.
What are early signs of DMD?
Delayed motor milestones, Gower’s sign, calf pseudohypertrophy, and difficulty rising from the floor.
At what age is DMD typically diagnosed?
Between 4-5 years old.
What is Gower’s sign, and what does it indicate?
A characteristic maneuver where a child climbs up their legs to stand, indicating proximal muscle weakness.
What is the expected progression of ambulation in DMD?
Children typically lose independent ambulation around age 12-15 due to progressive LE weakness.
What are the primary PT interventions for DMD?
Stretching, night splints, concentric/isometric exercises, respiratory therapy, and functional mobility training.
What type of exercise should be avoided in DMD?
Eccentric exercises, as they can cause further muscle damage.
What medications are used for DMD management?
Glucocorticoids (e.g., prednisone) to slow disease progression and prolong ambulation.
What are common side effects of steroids in DMD treatment?
Weight gain, osteoporosis, behavioral changes, and growth suppression.
What functional tests are used to assess DMD progression?
10 Meter Walk Test, Timed Rise from Floor, Northstar Ambulatory Assessment, and 6 Minute Walk Test.
What does a 10 Meter Walk Test time >12 seconds indicate in DMD?
Predicts loss of ambulation within one year.
What is the primary outcome measure for tracking functional changes in DMD?
Northstar Ambulatory Assessment (NSAA), a 17-item test assessing mobility tasks.
How does Becker Muscular Dystrophy (BMD) differ from DMD?
BMD has a later onset, slower progression, and partially functional dystrophin.
What is the typical lifespan for BMD patients?
Can survive into mid-to-late adulthood, unlike DMD which has a shorter lifespan.
What functional challenges do BMD patients experience?
Similar to DMD but with a later onset of weakness and variable progression.
What is the underlying cause of Spinal Muscular Atrophy (SMA)?
Genetic deletion or mutation in the SMN1 gene, leading to loss of anterior horn cells in the spinal cord.
What are the three primary types of SMA?
Type I (most severe, diagnosed <6 months), Type II (diagnosed 6-18 months), Type III (mildest, diagnosed >18 months).
What is the expected lifespan for SMA Type I?
Without intervention, infants often do not survive beyond two years due to respiratory failure.
What are key characteristics of SMA Type II?
Weakness apparent within the first year, contractures, inability to walk independently, reliance on wheelchair mobility.
What interventions help maintain function in SMA Type II?
ROM exercises, endurance training, bracing, standers, and early power mobility.
What is SMA Type III, and how does it present?
A milder form with later onset of weakness, allowing for walking but with eventual loss of mobility in adulthood.
What medications have revolutionized SMA treatment?
Spinraza (nusinersen), Zolgensma (gene therapy), and Evrysdi (oral therapy).
What outcome measures are used in SMA?
CHOP INTEND for SMA Type I and Hammersmith Functional Motor Scale for SMA Type II & III.
