background participants

Participant 037

hypotonia, seizures
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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.


Male, age 4, with low muscle tone (hypotonia), seizures (epilepsy), and developmental delay

Date of Report

Oct 03, 2017


After the patient was born, he had trouble breathing and was admitted to the NICU.  He also had an abnormal neck position (torticollis) and difficulty eating (failure to thrive). At 6 months, he was not meeting his developmental milestones. In particular, his motor skills were behind.

When the patient was 1 year old, he had his first seizure during a fever. Over the next few weeks, he continued to have seizures with and without fevers. After these episodes, he would regress in terms of his milestones. His verbal skills would decline and he would have an unsteady walk (gait). MRI imaging of his brain and spine at this time were both normal. During a physical exam, he was found to have low muscle tone (hypotonia) and joints that move beyond normal range (hypermobility).

Currently the patient’s seizures are controlled with medication and he is at a 2-2.5 year level in terms of his milestones.

Symptoms / Signs
  • Developmental delay
  • Regression
  • Seizures (generalized tonic-clonic and myoclonic)
  • Low muscle tone (hypotonia)
  • Prominent forehead (relative macrocephaly)
  • Unsteady walk (unsteady gait)
  • Joints move beyond normal range (hypermobility)
Current Treatments
  • Coenzyme Q10- suspected mitochondrial condition
  • Keppra, diazepam- seizures
  • Levocarntitine, whey protein- low carnitine levels
Prior Treatments
  • Rocephin- high white blood cell count
  • Phenobarbital- seizures
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Fragile X syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Mitochondrial condition
  • Mucopolysaccharidoses
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
see gene page
see gene page
see gene page
see gene page
see gene page

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


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