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 (3^rd 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.

• Global developmental delay
• Absent speech
• Hand tremor
• Brain abnormalities (thick corpus callosum, abnormality of periventricular white matter)
• Facial differences (sparse and thin eyebrows, periorbital fullness, bulbous nose, anteverted nares, short nose, long philtrum)
• Eye abnormalities (exotropia, unilateral ptosis)
• Ear abnormalities (low-set, posteriorly rotated, abnormally folded helix)
• Loose, not elastic skin (cutis laxa)
• Joints move beyond normal range (joint hypermobility)
• Increased muscle tone in lower limbs (hypertonia)

• Botox – hypertonia

• Congenital disorders of glycosylation
• Metabolic disorder
• Microdeletion/duplication syndromes
• Mitochondrial disorder
• Muscular dystrophies
• Myotonic dystrophy
• Neurometabolic disorders