background participants

Participant 170


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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

Date of Report

Aug 06, 2020

Description

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.

Symptoms / Signs
  • Delayed gross motor development
  • Delayed speech and language development
  • Problems with coordination (ataxia)
  • Tall stature
  • Large for gestational age
  • Astigmatism
  • Far sightedness (hyperopia)
  • Repetitive, uncontrolled eye movements (downbeat nystagmus)
  • Decreased muscle tone of trunk (muscular hypotonia of the trunk)
  • Trembling during precise movement (intention tremor)
  • Club foot (left talipes equinovarus)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Fragile X
  • Metabolic condition
  • Overgrowth syndromes
  • Prader-Willi syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers found a genetic change in the following gene to be causing the participant’s symptoms. Contact the UDN if you or someone you know has a variant in this gene.

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Contact

If this participant sounds like you or someone you know, please contact us!

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