Quiz 2 Flashcards
Which genetic mutation is responsible for Duchenne Muscular Dystrophy (DMD)?
A) Mutation in SMN1 gene
B) Deletion in Xp-21 region
C) Myotonic DMPK mutation
D) Chromosome 19 abnormality
B) Deletion in Xp-21 region
DMD is caused by a deletion or mutation in the Xp-21 region, affecting dystrophin production.
What is the typical age of diagnosis for DMD?
A) Birth
B) 2–5 years
C) 10–12 years
D) After 15 years
- B) 2–5 years
- DMD is commonly diagnosed between ages 2–5 when symptoms such as weakness and delayed milestones appear.
Which physical therapy intervention is contraindicated for patients with DMD?
A) Submaximal exercises
B) Cycling
C) High-resistance eccentric exercises
D) Stretching
C) High-resistance eccentric exercises
These are contraindicated as they can lead to muscle damage in DMD patients.
What is the most common cause of death in patients with DMD?
A) Liver failure
B) Cardiac or respiratory complications
C) Renal failure
D) Neurological decline
B) Cardiac or respiratory complications - Most patients with DMD die due to cardiopulmonary issues by their 20s or 30s.
What is the purpose of night splints for patients with DMD?
A) Prevent scoliosis progression
B) Maintain ankle range of motion
C) Strengthen lower limb muscles
D) Promote balance and coordination
B) Maintain ankle range of motion - Night splints help maintain range by providing a prolonged stretch to ankle structures.
What structure is primarily affected in Spinal Muscular Atrophy (SMA)?
A) Peripheral nerves
B) Anterior horn cells
C) Neuromuscular junction
D) Dystrophin gene
B) Anterior horn cells
SMA is a neurogenic disorder affecting the anterior horn cells and leading to muscle weakness.
Which SMA type is characterized by onset before 6 months and rapid progression?
A) Type 0
B) Type 1
C) Type 2
D) Type 4
B) Type 1
SMA Type 1, or Werdnig-Hoffmann disease, presents before 6 months and often leads to respiratory failure.
Which drug therapy for SMA is administered as a single-dose IV?
A) Spinraza
B) Zolgensma
C) Evrysdi
D) Corticosteroids
B) Zolgensma
Zolgensma is a gene replacement therapy for SMA, administered as a single-dose IV infusion.
What is the hallmark clinical symptom of SMA?
A) Increased deep tendon reflexes
B) Muscle atrophy and weakness
C) Sensory deficits
D) Hypertonicity
B) Muscle atrophy and weakness
SMA is primarily characterized by progressive muscle weakness due to motor neuron degeneration.
Which physical therapy intervention is most appropriate for a child with SMA who is a sitter?
A) Independent walking exercises
B) Standing programs and bracing
C) Treadmill training
D) Submaximal strength training
B) Standing programs and bracing
- Sitters benefit from bracing and standing programs to maintain function and prevent contractures.
What is the primary cause of Respiratory Distress Syndrome (RDS) in neonates?
A) Infection
B) Surfactant deficiency
C) Premature lung fibrosis
D) Genetic abnormalities
B) Surfactant deficiency - RDS in neonates is caused by insufficient surfactant, leading to alveolar collapse.
Which of the following is a contraindication for chest physiotherapy in children?
A) Subcutaneous emphysema
B) High-frequency chest oscillation
C) Positive expiratory pressure
D) Diaphragmatic breathing exercises
A) Subcutaneous emphysema -
- This condition is a relative contraindication for chest physiotherapy techniques.
Which symptom is most associated with severe asthma exacerbation in children?
A) Cyanosis
B) Mild wheezing
C) Slight shortness of breath
D) Sneezing
A) Cyanosis
- Severe asthma can result in cyanosis due to inadequate oxygenation.
What is a characteristic symptom of cystic fibrosis?
A) Dry cough
B) Failure to thrive
C) Elevated muscle tone
D) Bradycardia
B) Failure to thrive
- CF often causes poor growth and weight gain due to malabsorption and respiratory complications.
Which intervention is recommended for mild to moderate cystic fibrosis?
A) High-intensity resistance training
B) Intermittent aerobic activities
C) Submaximal eccentric exercises
D) Passive stretching
B) Intermittent aerobic activities - Activities like cycling, walking, and swimming improve respiratory and cardiovascular function.
Which motor classification is most common in children with cerebral palsy?
A) Dyskinetic
B) Ataxic
C) Spastic
D) Hypotonic
C) Spastic - Approximately 75% of children with CP exhibit spasticity as the primary motor type.
What is a characteristic gait deviation in children with diplegic CP?
A) Toe walking bilaterally
B) Wide-based, unsteady gait
C) Scissoring gait
D) Increased trunk sway
C) Scissoring gait - Children with diplegic CP often present with a scissoring pattern due to spasticity in the adductors.
What is the primary etiology of cerebral palsy?
A) Genetic mutation
B) Hypoxic brain injury
C) Trauma after 2 years of age
D) Chronic inflammation
B) Hypoxic brain injury - CP results from non-progressive disturbances in the fetal or infant brain, often due to hypoxia.
Which GMFCS level describes children with CP who require assistive devices for ambulation?
A) Level I
B) Level II
C) Level III
D) Level IV
C) Level III - GMFCS Level III children use assistive devices for ambulation but have limited independence.
Which physical therapy intervention is evidence-based for improving gait in children with CP?
A) Passive stretching only
B) Constraint-induced movement therapy
C) Treadmill training
D) Electrical stimulation alone
C) Treadmill training
- Evidence supports treadmill training to improve reciprocal stepping and gait patterns in CP.
What is the clinical significance of pseudohypertrophy in DMD?
A) Indicates muscle strength is improving
B) Reflects replacement of muscle by fat and fibrous tissue
C) Is a normal finding in growing children
D) Suggests cardiac complications
B) Reflects replacement of muscle by fat and fibrous tissue
- Pseudohypertrophy in DMD is due to fat and fibrosis replacing muscle tissue.
Which test is commonly used to assess lower extremity function in children with DMD?
A) Brooke Scale
B) 6-Minute Walk Test
C) Modified Ashworth Scale
D) Timed Up and Go
B) 6-Minute Walk Test
- This test evaluates endurance and lower extremity functional capacity in DMD patients.
Which intervention is recommended for children with SMA to prevent contractures?
A) High-resistance exercises
B) Passive stretching
C) Weightlifting
D) Hyperextension exercises
B) Passive stretching - Passive stretching helps prevent joint contractures in SMA patients.
What is the primary aim of Spinraza in treating SMA?
A) Replacing the SMN1 gene
B) Increasing functional SMN protein production
C) Reducing fibrosis
D) Enhancing muscle regeneration
B) Increasing functional SMN protein production
-
Spinraza
works by promoting full-length SMN protein production.