The participant’s parents first noticed delays in his motor development around 2 years old. He began walking at 15 months but was unsteady on his feet. He had an abnormal gait while walking and muscle weakness mostly in his upper arms and legs (proximal muscle weakness). He also had low … read more
Shortly after birth, the patient was found to have pyloric stenosis, a condition in which muscles block food from entering the small intestine. She underwent surgery to correct this at 9 weeks. Currently she has reduced functioning of her stomach and intestines (reduced gastric and intestinal motility) and constipation. She … read more
As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but … read more
