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1

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) 

100

What chromosome is the gene responsible for SMARD1 located on?

a) chromosome 11

b) chromosome 9

c) chromosome 12

a) Chromosome 11 


100

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

100

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

200

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

  • C) Chest moves outward during inhalation while the abdomen moves inward

A) Chest moves inward during inhalation while the abdomen moves outward

200

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

200

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

500

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

500

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

500

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

800

What specific gene is mutated in SMARD1 patients? 

A) The SOD1 gene

B) The IGHMBP2 gene  

C) The SMN1 gene

 B) The IGHMBP2 gene

800

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)

800

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