Floppy infant / decreased Moro (SMA vs hypothyroid)
Appears 0×
Teaching point — how the wording changes the answer
SMA = hypotonia + areflexia + tongue fasciculations, but ALERT with preserved social smile / eye-following -> confirm with SMN1 molecular genetic testing. Congenital hypothyroidism = hypotonia + drowsy + CONSTIPATION + macroglossia + prolonged jaundice -> TFT. The discriminating words: 'tongue fasciculations / smiles & follows' -> SMA/genetics; 'constipation / macroglossia / drowsy' -> hypothyroid/TFT.
Q25
Infant, decreased Moro, smiles and follows with eyes. Test?
Key clue
Smiles/follows = cognition intact -> SMA
Show answer
Molecular genetics (SMN1)
Q80
Newborn hypotonia + reduced reflexes + head lag (hypothyroid / SMA / CP)
Key clue
Areflexia + head lag
Show answer
Spinal muscular atrophy
Q136
10-month, alert, smiling, head lag, decreased LL reflexes. Investigation?
Key clue
Alert + areflexia
Show answer
Muscle/genetic test
Q140
Hypotonic, reduced Moro. Investigation for diagnosis?
Key clue
Repeat stem
Show answer
Molecular genetics
Q155
8-week baby, SMA features
Key clue
SMA features
Show answer
Molecular genetic test
Q156
Older child, SMA features with TONGUE FASCICULATION
Key clue
Tongue fasciculation = classic SMA
Show answer
Molecular genetic test
Q161
8 weeks, hypotonia + absent reflexes (genetic / TFT / CK)
Key clue
Areflexia
Show answer
Genetic testing
Q203
10-month, drowsy, CONSTIPATED, reduced activity. Investigation?
Key clue
Constipation + drowsy -> hypothyroid (the discriminator)
Show answer
TFT
Q247
8-month head lag + decreased limb reflex. Investigation?
Key clue
Head lag + areflexia
Show answer
Genetic test
Q305/Q306/Q326
SMA diagnostic / confirmatory test (several variants, +/- family hx, gait)
Key clue
NCS vs genetic
Show answer
Genetic testing (confirmatory)
Q400
Floppy infant + TONGUE FASCICULATIONS
Key clue
Tongue fasciculations
Show answer
Spinal muscular atrophy
Q439
Infant decreased Moro, NO tongue fasciculations (TFT / genetic test)
Key clue
No fasciculations -> consider hypothyroid too, but still genetic for SMA
Show answer
Genetic test
Q481
SMA diagnosis
Key clue
Standard
Show answer
Genetic testing
NA-1
Child smiles, diminished reflex, NO macroglossia or constipation. Investigation?
Key clue
No macroglossia/constipation rules out hypothyroid -> SMA
Show answer
Genetic study