background participants

Participant 174

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Male, age 4, with seizures (bilateral tonic-clonic with generalized onset, focal impaired awareness seizure), involuntary muscle contractions (dystonia), global developmental delay, and upbeat nystagmus

Date of Report

Oct 01, 2020


The participant was born at term after an uncomplicated pregnancy and delivery. Shortly after birth he was noted to have low muscle tone (hypotonia) and feeding difficulties, and was treated with physical therapy. He began to have seizure episodes (generalized tonic-clonic) at 2 months old after developing a fever following vaccinations. This prompted a head CT and a brain MRI, which identified a small subdural hematoma that was likely present since birth. His seizures were successfully treated with Keppra, and he was later weaned off Keppra and remained seizure-free until he was 3 years old, at which time the seizures returned.

At 2 years old, the participant was unable to walk independently and had balance coordination problems. He also had increased reflexes (hyperreflexia) in both legs with abnormal foot reflexes (Babinski sign). He was later evaluated by Neurology, and was noted to be clumsy with low muscle tone (central hypotonia) and uncoordinated limb movements (limb dysmetria). He was also noted to have involuntary muscle contractions (dystonia) in his arms and legs. Cerebral palsy was ruled out at that time. At 4 years old he developed abnormal, involuntary, repetitive eye movements (nystagmus and upbeat nystagmus).

Early on in life the participant began to experience delays in his development. He was able to roll over at 3-4 months and sat unsupported at 16 months. Currently, he is unable to walk independently. However he can crawl, pull himself to standing, and use a walker. He has a good grasp when using his hand (palmar grasp) but struggles with grabbing things with his pointer finger and thumb (pincer grasp). He babbles and says “Mama” and “Dada,” but has no other speech. He has learned some signs and can follow commands. He loves going to school where he receives speech, occupational, and physical therapy on a weekly basis. He also loves playing with his big brother, being outside, and music.

Symptoms / Signs
  • Absent speech
  • Delayed gross motor development
  • Delayed speech and language development
  • Global developmental delay
  • Seizures (Bilateral tonic-clonic with generalized onset, focal impaired awareness seizure)
  • Cerebral palsy
  • Clumsiness
  • EEG abnormality
  • Bleeding in the brain (subdural hemorrhage)
  • Horizontal and vertical repetitive, uncontrolled eye movements (nystagmus and upbeat nystagmus)
  • Inability to walk
  • Increased reflexes (hyperreflexia)
  • Involuntary muscle contractions (dystonia)
  • Poor gross and fine motor coordination
  • Uncoordinated limb movement (limb dysmetria)
  • Stiff Achilles tendon (Achilles tendon contracture)
  • Abnormality of foot reflex (Babinski sign)
  • Low muscle tone (central hypotonia)
  • Increased muscle tone (hypertonia)
Current Treatments
  • B6 compound
  • Ear tubes – ear infections
  • Keppra – seizures
  • Physical, occupational, and speech therapy
  • Vimpat
Prior Treatments
  • Stem cell therapy
Considered treatments
Previously Considered Diagnoses
  • Angelman/Prader Willi syndrome
  • Cerebral palsy
  • Fragile X syndrome
  • Microdeletion and microduplication syndromes
  • Mitochondrial disorders
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms.

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
chr16:g.29872454A>C & chr16:g.29871937C>T
c.305T>G & c.379G>A
p.Val102Gly & p.Gly127Arg

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


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