Patients were unable to walk on heels but could stand on their toes. None had facial weakness.
[ncbi.nlm.nih.gov]
However, the electromyogram (EMG) test results will show abnormalities. A muscle biopsy is done to confirm the diagnosis.
[primehealthchannel.com]
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]