The participant was healthy with no medical concerns until the age 5. Around this time, his mother noticed that his right foot was turned in. Over time, his started to become rigid and he lost his ability to walk by the age of 10. He also had unusual movements in … read more
The patient was meeting his developmental milestones until age 2.5 when he started losing skills. He was previously able to walk, but now has trouble sitting and holding his head upright. He has lost his fine motor skills and keeps his hands in a fist position. His parents report that … read more
From birth, the participant had difficulties feeding due to aspirations, requiring a G-tube from 3 months old until age 4. During infancy and early childhood, he was noted to have weak cartilage in the bronchial tubes (bronchomalacia) but this has since improved. The participant experiences frequent ear and sinus infections … read more
