PTC Therapeutics' Kebilidi gains FDA accelerated approval as the first brain-administered gene therapy in the U.S. for AADC ...

severe muscle hypotonia at birth, scoliosis at birth, scleral fragility, rupture of the ocular globe • Positive family history (e.g., affected siblings) • Physical findings include tissue ...

At the age of five months, the children presented with repeated vomiting and developed strabismus, progressive muscular hypotonia, myoclonic epilepsy and psychomotor regression. A cranial CT-scan ...

This bodily hypotonia affected and weakened Paul's ear muscles and auditory zoom, so it couldn't differentiate the frequencies of human speech. (Our auditory zoom allows us, when we enter a ...

She had been diagnosed with hypotonia, or muscle weakness. Cheyenne said: ‘We had a CT of Eden’s head because of her ...

Mechanical ventilation was required for 6 days. In addition, the infant exhibited pronounced muscular hypotonia (“floppy infant”) and very poor feeding, with prolonged weaning from tube ...

Common clinical features include hypotonia (reduced muscle tone), reduced or absent reflexes, and severe weakness in proximal muscles—those closest to the body’s center, such as the shoulders ...

Many affected children also have microcephaly (small head), axial hypotonia (decreased muscle tone), and appendicular hypertonia with spasticity on neurological examination. We see additional eye ...

Fetal/Neonatal Adverse Reactions: May cause respiratory depression, hypotonia, and sedation in neonates. Monitor neonates exposed to Klonopin during pregnancy or labor for signs of sedation ...