Neuromuscular Disorders & School Based PT Flashcards
Week 5
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.
What is CHOP INTEND, and who is it used for?
A motor function test for weak infants with SMA Type I.
What is the Hammersmith Functional Motor Scale?
An assessment tool for SMA Types II & III, evaluating gross motor function like sitting, standing, and walking.
What are red flags that indicate the need for pediatric neuromuscular specialist referral?
Progressive weakness, frequent falls, loss of previously acquired skills, and delayed motor milestones.
Why is early referral important for neuromuscular disorders?
Early intervention can slow disease progression and improve quality of life.
What orthotic interventions are used for children with DMD?
AFOs for nighttime stretching, KAFOs for ambulation support, and standers for weight-bearing.
What is the role of power mobility in SMA Type II?
Enables early independent movement, reducing dependence on caregivers.
What seating considerations are important in neuromuscular disorders?
Proper pelvic and trunk support to prevent scoliosis and maintain function.
How do PTs support children with neuromuscular disorders in schools?
Assess mobility needs, recommend environmental modifications, and provide assistive technology training.
What assistive technology might be needed for a child with SMA?
Power wheelchairs, adaptive seating, communication devices, and standers.
What environmental adaptations support mobility in school settings?
Ramps, elevators, accessible desks, and wider hallways for wheelchair access.
What are key predictors of ambulation loss in DMD?
10 Meter Walk Test >12 sec, inability to rise from the floor in <30 sec, and stair climbing >8 sec.
What interventions help prolong ambulation in neuromuscular disorders?
Stretching, functional strengthening, orthotic support, and respiratory care.
What is the importance of respiratory function monitoring in neuromuscular disorders?
Weak respiratory muscles increase the risk of pneumonia and respiratory failure.
What interventions support pulmonary function in SMA and DMD?
Postural drainage, assisted coughing, BiPAP/ventilator support, and pulmonary PT.
Why is family-centered care critical in neuromuscular disease management?
These disorders are progressive, requiring ongoing support, education, and emotional guidance.
How should PTs communicate with families of children with progressive disorders?
Be honest, provide resources, focus on quality of life, and support family decision-making.
What are key psychosocial concerns for families of children with DMD?
Coping with a progressive diagnosis, navigating care decisions, and advocating for school accommodations.
