Jun 02, 2022

The participant was born after a pregnancy complicated by low amniotic fluid levels. He was delivered via c-section due to decreasing fetal heart rate. After birth, he was noted to be healthy. Concerns regarding his development arose at 6 months of age from his daycare providers. He has since continued to have problems with coordination, movement, and speech delays.

At around age 3, he was having more difficulty crawling, raising concern for a loss of skills (regression). With consistent regular therapy and one-on-one assistance, he has developed additional skills but remains behind relative to his peers in gross motor, fine motor, and speech. He is not walking independently but can walk using a pacer. He is a bright and happy child who appears to understand more than he can say. His brain MRIs show brain abnormalities (continued progressive cerebellar atrophy and FLAIR changes in the cerebellum).

The participant’s younger brother, who is 2 years old, has started to show similar symptoms of developmental delay, low muscle tone (truncal hypotonia), and brain abnormalities (cerebellar atrophy). There are no other family members with similar symptoms.

• Moderate global developmental delay
• Brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy)
• Problems with coordination (ataxia, dysmetria)
• Involuntary shaking (intention tremor, postural tremor, action tremor, truncal titubation)
• Abnormal gait (broad-based gait, unsteady gait)
• Facial differences (anteverted nares, narrow palpebral fissure)
• Eye abnormalities (nystagmus, strabismus, slowed horizontal saccades)
• Difficulty speaking (dysarthria)
• Abnormal orientation of the earlobes (uplifted earlobe)
• Light-colored birthmark (café-au-lait spot)

• Ankle-foot orthosis
• Balancewear vest
• Botox
• Dynamic Movement orthotic
• Physical, occupational, and speech therapies

• Oral baclofen and carbadopa: levodopa

• Amantidine