background participants

Participant 201

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.


Male, age 5, with global developmental delay, coordination and movement problems (ataxia), and speech delays

Date of Report

Jun 02, 2022


The participant was born after a pregnancy complicated by low amniotic fluid levels. He was delivered via c-section due to decreasing fetal heart rate. After birth, he was noted to be healthy. Concerns regarding his development arose at 6 months of age from his daycare providers. He has since continued to have problems with coordination, movement, and speech delays.

At around age 3, he was having more difficulty crawling, raising concern for a loss of skills (regression). With consistent regular therapy and one-on-one assistance, he has developed additional skills but remains behind relative to his peers in gross motor, fine motor, and speech. He is not walking independently but can walk using a pacer. He is a bright and happy child who appears to understand more than he can say. His brain MRIs show brain abnormalities (continued progressive cerebellar atrophy and FLAIR changes in the cerebellum).

The participant’s younger brother, who is 2 years old, has started to show similar symptoms of developmental delay, low muscle tone (truncal hypotonia), and brain abnormalities (cerebellar atrophy). There are no other family members with similar symptoms.

Symptoms / Signs
  • Moderate global developmental delay
  • Brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy)
  • Problems with coordination (ataxia, dysmetria)
  • Involuntary shaking (intention tremor, postural tremor, action tremor, truncal titubation)
  • Abnormal gait (broad-based gait, unsteady gait)
  • Facial differences (anteverted nares, narrow palpebral fissure)
  • Eye abnormalities (nystagmus, strabismus, slowed horizontal saccades)
  • Difficulty speaking (dysarthria)
  • Abnormal orientation of the earlobes (uplifted earlobe)
  • Light-colored birthmark (café-au-lait spot)
Current Treatments
  • Ankle-foot orthosis
  • Balancewear vest
  • Botox
  • Dynamic Movement orthotic
  • Physical, occupational, and speech therapies
Prior Treatments
  • Oral baclofen and carbadopa: levodopa
Considered treatments
  • Amantidine
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Mitochondrial disease
  • Spinocerebellar Ataxia
Other Photographs
Genetic Variants of Interest

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

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
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!


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.