Male, age 6, with global developmental delay, problems with coordination (ataxia) and repetitive, uncontrolled eye movements (downbeat nystagmus) caused by a change in the DAGLA gene
Aug 06, 2020
The participant was born full term after a pregnancy complicated by gestational diabetes and hypothyroidism in his mother. He was delivered by cesarean section due to his large size. A left club foot was identified before birth and was repaired at 2 months old. At 4 months he was noted to have repetitive, uncontrolled eye movements (downbeat nystagmus), which he had surgery for at 2 years old. He also wears glasses for his far sightedness (hyperopia).
The participant’s parents first became concerned about his development around 6-7 months of age. He first sat independently at 11 months old, his first words were at 19 months and he first walked on his own at 3 years old. Currently he is able to walk independently, however he is unsteady and has trouble with his balance and coordination. He also has a tremor which has improved over time. Recently he has been making good developmental progress and can now walk up stairs and speak in full sentences.
Clinicians and researchers found a de novo genetic change in the following gene to be causing the participant’s symptoms.
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