Apr 08, 2021
The participant was born at 39 weeks gestation and was treated in the NICU for 6 days due to low oxygen levels (hypoxia) caused by significant nasal congestion and airway obstruction.
The participant’s motor delay was first noticed around 4-6 months old. At 8 months, he was noted to have low weight (3rd percentile) with normal height and head circumference. At 13 months, testing indicated possible muscle differences (myotonia). At 1 year old, he was found to have muscle weakness especially in the trunk.
At 3 years old he continued to have weakness, abnormal hand movements, and increased tone in the lower limbs (hypertonia). At that time, he was considered to be at around 12 months developmentally. He was mostly army crawling and was unable to walk on his own. Notably, the participant did not experience developmental regression or behavioral problems.
If this participant sounds like you or someone you know, please contact us!
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