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Participant 214

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 8, with seizures, hearing loss (sensorineural), vision loss, and a decline in language skills

Date of Report

Jul 19, 2023


The participant was born at full term and had an unremarkable birth history. Her mother experienced a rash (pruritic urticarial papules and plaques) during pregnancy, but the pregnancy was otherwise normal. She notably passed her newborn screening hearing evaluation.

The participant’s family members first noticed she did not respond to voice or claps around 3-4 months of age. She had otherwise normal development up until 11 months when there was a concern of a speech delay. She required hearing aids at 15 months. She was diagnosed with hearing loss (sensorineural) in both ears at 16 months and subsequently received cochlear implants. Genetic testing for genes associated with hearing loss was negative.

At around 1 year and 7 months, the participant’s eyes began “shaking” (nystagmus). At 2 years old she began losing her peripheral vision and at 2.5 she began to claim she was seeing “spiders”, indicating vision loss. Currently, her eyes are unreactive to light. An eye evaluation revealed spots on her retina and underdevelopment of both optic nerves. The participant’s vision loss was assumed to be retinitis pigmentosa in the past but an exact diagnosis has not been determined.

Around age 4, the participant began twitching and jerking (myoclonus and choreiform movements) in her sleep, mostly on her right side, and occasionally when awake. She began experiencing periods of loss in muscle strength (atonic seizures) and was put on a modified Atkins diet. On day three of the diet, she had unexplained low blood sugar levels (hypoglycemia) and constant eye blinking every 1-5 minutes.

She frequently experienced intermittent head drops (atonic seizures) that would progress to full-body drops throughout the year. From ages 3-5, she was still walking and talking. The shaking and jerking movements began to occur when she was awake. By 5 years old she stopped walking and soon stopped talking. She was placed on a G-tube to help with feeding.

She underwent a Phenobarbital coma to treat the seizures at age 5. She improved and began walking and talking again. After 3 months, her seizures returned and she began repeating herself (echolalia) and losing her memory. She underwent a second treatment that resulted in 2-3 weeks of improvement followed by further decline.

The participant underwent surgery (corpus callosotomy) to help with her seizures and regained her speech briefly. She had a third seizure treatment (Phenobarbital coma) that controlled her seizures for a few days but did not bring her speech or movement back. She underwent a different seizure treatment (vagus nerve stimulation) that improved her head control for two weeks.

The participant is currently not walking or talking and is g-tube dependent. There is concern that she is developing a curved spine (kyphosis). She has difficulties breathing in her sleep (sleep apnea) per a sleep study. Brain MRI studies from 2019 were reportedly normal.

Symptoms / Signs
  • Brain disease with seizures (epileptic encephalopathy, status epilepticus, absence seizures, atonic seizures)
  • Childhood onset sensorineural hearing impairment
  • Progressive vision loss
  • Developmental Regression
  • Abnormal brain activity (multifocal epileptiform discharge)
  • Upper eye drooping (Ptosis)
  • Uncontrolled eye movements (nystagmus)
  • Difficulty swallowing (dysphagia)
  • Involuntary movements (choreoathetosis)
  • Low muscle tone (generalized hypotonia)
  • Sudden muscle jerks (myoclonus)
  • Increased curvature of the spine (scoliosis)
  • Uncoordinated walking (gait ataxia)
Current Treatments
  • Albuterol
  • Diazepam
  • Clonazepam
  • Coenzyme Q10
  • Gabapentin
  • Levetiracetam
  • Onfi
  • Phenobarbital
  • Polyethylene glycol
  • Pyridoxine
  • Vitamin E
  • Zonisamide
Prior Treatments
  • Corpus callosotomy
  • Modified Atkins diet
  • Phenobarbital coma
  • Vagus nerve stimulation
Considered treatments
Previously Considered Diagnoses
  • Ataxia repeat expansion disorders
  • Batten disease
  • Inherited retinal disorders
  • Leber congenital amaurosis
  • Leigh syndrome
  • Metabolic conditions
  • Mitochondrial disease
  • Neuronal ceroid lipofuscinoses
  • Neurotransmitter disorders
  • Progressive myoclonic epilepsies
  • Retinitis pigmentosa
  • Usher syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant

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


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