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Participant 003

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 hypotonia, delayed brain myelination, and developmental delays caused by a change in the CACNA1A gene

CNN Article

Date of Report

May 13, 2016


When the patient was 4 months old, she was noticed to have poor head control and low muscle tone. At 10 months, she had a brain MRI that showed mild thinning of the nerve fibers that join the two hemispheres of the brain (called the corpus callosum) and delay in myelination of deep white matter in the brain. At age 3, she had another brain MRI that showed a decrease in the area of the brain called the cerebellum. She does not have a history of seizures. Currently the patient is able to sit, crawl, and walk with the assistance of a walker. However, she does lose stability easily and primarily uses a wheelchair. She does not communicate verbally, but does communicate through sign language and an iPad. Overall the patient is delayed developmentally, but is making progress in gaining developmental skills and has not regressed in any skills. She feeds herself and is very social, engaged, and friendly.

Symptoms / Signs
  • Low muscle tone (hypotonia)
  • Problems with coordination (ataxia)
  • Reflexes occur more slowly (depressed deep tendon reflexes)
  • Decrease in the area of the brain called the cerebellum (cerebellar atrophy and hypoplasia)
  • Delayed development
  • Nonverbal, but excellent receptive language (expressive language disorder)
  • Eyes cross when trying to see clearly (accommodative esotropia)
  • Farsightedness (hyperopia)
Current Treatments
  • Diamox
Prior Treatments
  • Coenzyme Q10 and carnitine- no significant improvement in hypotonia
Considered treatments
Previously Considered Diagnoses
  • Rett syndrome
  • GLUT1 deficiency
  • Niemann-Pick disease
  • Micro-deletion/duplication syndrome
  • Mitochondrial condition
  • Aminoacylase 1 deficiency
  • Inherited ataxia syndromes
  • Prader-Willi syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms (Luo et al, 2017):

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