Spinal muscular atrophy

Question 1

Gene mutation in SMA

Answer 1

Survival motor neurone 1 (SMN1) - leads to a deficiency SMN protein –> subsequent loss of motor neurons in the brainstem and spinal cord leads to muscle denervation and atrophy

Question 2

Red flags for SMA

Answer 2

Hypotonia, poor head control, for leg posture when supine, tongue fasciculations, absent DTR, delayed millstones, muscle weakness, bright and alert