CLINICAL FEATURES
Which of the following examination signs is NOT typically seen in a hypotonic infant?
a) Slip-through when held under the arms
b) Frog-leg posture
c) Scissoring of legs with adduction
d) Head lag on pull-to-sit
Scissoring of legs with adduction
Choose a feature NOT in favour of central hypotonia
A)absent deep tendon reflex
B) dysmorphic facies
C) persistent neonatal reflexes
D ) mild to moderate hypotonia
absent deep tendon reflex
Which of the following domain is MOST affected in SMA type 2
a)Fine motor
b)Cognition
c)Gross motor
d)Speech
Gross motor
In an infant with congenital myotonic dystrophy, the most effective supportive treatment to improve survival is:
A. Corticosteroids
B. Early tracheostomy and mechanical ventilation
C. Anticholinesterase therapy
D. Enzyme replacement therapy
Early tracheostomy and mechanical ventilation
Which of the following is NOT a feature of antenatal cause of a hypotonic infants
a)Arthrogryposis
b)Oligohydramnios
c)Pulmonary hypoplasia
d)Facial diplegia
d)Facial diplegia
The classic “frog-leg posture” with intercostal recession but normal facial expression in a floppy infant suggests:
A. Congenital myopathy
B. Spinal muscular atrophy type 1
C. Infantile botulism
D. Hypoxic ischemic encephalopathy
Spinal muscular atrophy type 1
The most common chromosomal cause of central hypotonia is?
A. Trisomy 13
B. Trisomy 18
C. Trisomy 21
D. Turner syndrome
Trisomy 21
A 6-month-old infant is diagnosed with Spinal Muscular Atrophy (SMA) type 1. Which of the following drugs works by modifying the splicing of SMN2 gene to increase the production of full-length SMN protein?
A. Onasemnogene abeparvovec
B. Risdiplam
C. Nusinersen
D. Valproate
Nusinersen
Which of the following muscle may NOT be affected in a floppy infant?
a)Intestinal muscle
b)Cardiac
c)Facial diplegia
d)Gubernaculum
d)Gubernaculum
A full-term neonate is noted to be markedly hypotonic with weak cry and poor suck from birth. Deep tendon reflexes are preserved. Family history reveals an older sibling who died in infancy with similar symptoms. On electrophysiological testing, nerve conduction velocities are normal, but electromyography demonstrates a progressive decremental response on repetitive nerve stimulation at low frequencies.Which of the following diagnoses best explains these findings?
A. Congenital myopathy
B. Spinal muscular atrophy
C. Congenital myasthenic syndrome
D. Congenital muscular dystrophy
Congenital myasthenic syndrome
Benign congenital hypotonia” differs from SMA in that:
A. Associated with joint dislocations
B. Associated with scoliosis
C. Always progressive
D. Associated with cranial nerve palsy
Associated with joint dislocations
A 4-month-old previously healthy infant presents with progressive hypotonia, poor feeding, weak cry, and constipation for 5 days. Examination shows ptosis, sluggish pupillary reaction, diminished gag reflex, and generalized weakness. Reflexes are preserved. CK levels are normal. EMG shows an incremental response on high-frequency repetitive nerve stimulation.Which of the following is the most appropriate next step in management?
A. Start pyridostigmine to enhance neuromuscular transmission
B. Administer botulinum antitoxin (human-derived immune globulin, BIG-IV)
C. Begin intravenous immunoglobulin (IVIG) as used in GBS
D. Provide corticosteroids to reduce toxin-mediated inflammation
Administer botulinum antitoxin (human-derived immune globulin, BIG-IV)
A newborn with generalized hypotonia, clubfoot, and the facial appearance tented upper lip is most likely to have:
A. Spinal muscular atrophy type 1
B. Congenital myotonic dystrophy
C. Prader-Willi syndrome
D. Zellweger spectrum disorder
Congenital myotonic dystrophy
Two imprinting disorders involve the same chromosomal region (15q11–13) but differ in parental origin of the defect.
Case 1: A child presents with hypotonia in infancy, later developing hyperphagia, obesity, short stature, and hypogonadism.
Case 2: Another child presents with severe developmental delay, seizures, ataxia, frequent laughter, and a happy disposition.
Which of the following best matches the most common underlying genetic mechanisms of these two conditions?
A. Case 1: Maternal deletion of 15q11–13; Case 2: Paternal deletion of 15q11–13
B. Case 1: Paternal deletion of 15q11–13; Case 2: Maternal deletion of 15q11–13
C. Case 1: Paternal uniparental disomy; Case 2: Maternal uniparental disomy
D. Case 1: Imprinting defect in maternal allele; Case 2: Imprinting defect in paternal allele
Case 1: Paternal deletion of 15q11–13; Case 2: Maternal deletion of 15q11–13
A newborn presents with severe hypotonia, seizures, enlarged liver, and unusual facial features. Blood tests show very high levels of very long-chain fatty acids (VLCFA). What is the most likely diagnosis?
A. Mitochondrial disorder
B. Lysosomal storage disease
C. Zellweger syndrome
D. Maple syrup urine disease
Zellweger syndrome
An infant with genetically confirmed congenital myasthenic syndrome shows no clinical improvement with pyridostigmine. Which of the following would be the next rational therapeutic trial, depending on the specific genotype?
A. Albuterol (salbutamol) or ephedrine
B. 3,4-diaminopyridine (3,4-DAP)
C. Quinidine or fluoxetine
D. Corticosteroids
Albuterol (salbutamol) or ephedrine
A neonate presents with hypotonia, arthrogryposis, contractures at birth, and respiratory failure. Which underlying mechanism is most likely?
A. Prenatal anterior horn cell degeneration
B. Neuromuscular junction defect
C. Inborn error of metabolism
D. Congenital myotonic dystrophy
Prenatal anterior horn cell degeneration
A 6-week-old infant with profound hypotonia, absent reflexes, paradoxical respiration, and feeding difficulty has normal CK levels, normal EMG, but muscle biopsy reveals Centronuclear fibers and fiber type disproportion. Which of the following is the most likely diagnosis?
A. Spinal muscular atrophy type 1
B. Nemaline myopathy
C. Congenital muscular dystrophy
D. Myotubular myopathy
Myotubular myopathy
A floppy neonate with seizures, poor visual tracking, microcephaly, and brisk reflexes is most likely to have:
A. Spinal muscular atrophy
B. Cerebral dysgenesis
C. Congenital myopathy
D. Congenital muscular dystrophy
Cerebral dysgenesis
Which treatment is most appropriate for Pompe disease presenting in infancy with hypotonia and cardiomegaly?
A. Idursulfase
B. Alglucosidase alfa
C. Galsulfase
D. Laronidase
Alglucosidase alfa