The participant was meeting his developmental milestones until age 6 when he started to struggle with walking, falling 2-3 times a month. He also started slurring his words and his speech became muffled, making it difficult to understand. A year later when he was evaluated, he was found to have … read more
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
The patient was born early at 35 weeks. During the first few months of her life, she had multiple episodes of “turning blue” (cyanotic episodes) and was diagnosed with many upper respiratory and ear infections. She also had bronchitis and pneumonia several times. Around age 6, she started to complain … read more
