Genetics & Symptoms
Which neuromuscular condition is SMARD1 most frequently misdiagnosed as during initial infant evaluation?
A) Spinal Muscular Atrophy Type 1 (SMA Type 1)
B) Spinal Muscular Atrophy Type 2 (SMA Type 2)
C) Spinal Muscular Atrophy with Lower Extremity Predominance (SMA-LED)
A) Spinal Muscular Atrophy Type 1 (SMA Type 1)
What chromosome is the gene responsible for SMARD1 located on?
a) chromosome 11
b) chromosome 9
c) chromosome 12
a) Chromosome 11
What three initial screening tests are performed during Phase 1 evaluation?
A) Chest X-ray, blood gas analysis, and routine blood tests
B) Chest CT scan, echocardiogram, and full metabolic panel
C) Spirometry, chest X-ray, and arterial line placement
A) Chest X-ray, blood gas analysis, and routine blood tests
What mechanical therapy cycle is performed daily to help clear mucus and lung secretions?
A) Incentive Spirometry & Nebulizer Protocol
B) Continuous Positive Airway Pressure (CPAP) Titration
C) Cough-Assist Device Cycle & Suctioning
C) Cough-Assist Device Cycle & Suctioning
What movement pattern defines paradoxical abdominal breathing in infants?
A) Chest moves inward during inhalation while the abdomen moves outward
B) Chest and abdomen both move outward simultaneously during inhalation
A) Chest moves inward during inhalation while the abdomen moves outward
What is the primary objective of Phase 1 testing in symptomatic infants?
A) Confirms definitive genetic diagnosis via high-throughput DNA sequencing
B) Evaluates long-term diaphragm muscle regeneration potential
C) Rules out primary lung infections and checks breathing failure severity
C) Rules out primary lung infections and checks breathing failure severity
According to the Orphaned database, what is the estimated prevalence of SMARD1?
A) Fewer than 1 in 1,000,000 live births
B) Approximately 1 in 10,000 live births
C) 1 in 100,000 live births
A) Fewer than 1 in 1,000,000 live births
If both parents are asymptomatic carriers, what is the chance per birth that their child will inherit SMARD1?
a) 50% chance per birth
b) 50% chance for males, 0% for females (X-Linked Recessive)
c) 25% chance per birth (Autosomal Recessive
c) 25% chance per birth (Autosomal Recessive
Which real-time motion X-ray test in Phase 2 visually demonstrates diaphragm immobility?
A) Diaphragmatic Fluoroscopy
B) Chest Radiography (Static X-ray)
C) Computed Tomography (CT) Angiography
A) Diaphragmatic Fluoroscopy
How old is the oldest documented SMARD1 survivor reported in medical literature?
A) 21 years old
B) 13 months old
C) 5 years old
A) 21 years old
What specific gene is mutated in SMARD1 patients?
A) The SOD1 gene
B) The IGHMBP2 gene
C) The SMN1 gene
B) The IGHMBP2 gene
What needle electrodiagnostic test measures electrical activity in muscles to detect loss of spinal motor neurons?
A) Nerve Conduction Velocity (NCV) test
B) Electromyography (EMG)
C) Electroencephalography (EEG)
B) Electromyography (EMG)
In what experimental subject models has functional IGHMBP2 gene replacement therapy proven successful?
A) Non-Human Primate Models
B) Transgenic Mouse Models
C) In Vitro Human Organoid Models
B) Transgenic Mouse Models