background participants

Participant 120

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 2, with seizures, profound global developmental delay, involuntary movements (chorea), and elevated serum pipecolic acid

Date of Report

Mar 29, 2019


When she was an infant, the participant was noticed to have low muscle tone (generalized hypotonia) and global developmental delay. Over time she began to develop involuntary movements (chorea), which progressed to seizures, first infantile spasms then generalized tonic seizures. Currently, these generalized tonic seizures occur every day, up to 60 times per day. These seizures have not been successfully controlled with typical treatments.

Symptoms / Signs
  • Profound global developmental delay
  • Elevated serum pipecolic acid
  • Seizures (infantile spasms, generalized tonic seizures)
  • Abnormal brain activity (EEG with continuous slow activity, multifocal epileptiform discharges)
  • Epileptic encephalopathy
  • Low muscle tone (generalized hypotonia)
  • Involuntary movements (chorea)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Myotonic dystrophy
  • Peroxisomal disorder
  • Prader Willi syndrome
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
Autosomal dominant
Autosomal dominant

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


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