Patients were unable to walk on heels but could stand on their toes. None had facial weakness.
[ncbi.nlm.nih.gov]
(1) presents at birth with severe muscle weakness and hypotonia (2) respiratory insufficiency (3) difficulty sucking and swallowing (4) aspiration pneumonia (5) rarely cardiomyopathy
[meducator3.net]
Initial examination in the neonatal nursery revealed a flaccid infant with severe hypotonia, absence of deep tendon reflexes, extremity contractions, high arched palate, long
[healio.com]