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Participant 146


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 18, with seizures, regression, and brain abnormalities (cortical dysplasia, brain atrophy), diagnosed with Dentatorubral-pallidoluysian atrophy caused by a genetic change in the ATN1 gene
Date of Report

Oct 01, 2019

Description

The participant had normal development until about 6 years. Around that time, her development plateaued. At age 9 she began having seizures, which have worsened over time.

The participant has some brain abnormalities (cortical dysplasia and an EEG with generalized slow activity); however, clinicians do not believe these findings explain all of her symptoms. Recently, she also developed gait and balance issues as well as a tremor with some movements.

A variant of unknown significance in the FBN1 gene was found in this participant which may explain some of her physical features. However, clinicians do not believe this explains her other symptoms and research into the cause of her condition is still ongoing.

The participant’s symptoms were found to be caused by a genetic change in the ATN1 gene, which diagnosed her with Dentatorubral-pallidoluysian atrophy.

Symptoms / Signs
  • Seizures (myoclonus, generalized-onset seizure)
  • Intellectual disability, progressive
  • Unsteady gait
  • Brain abnormalities (cortical dysplasia, brain atrophy, EEG with generalized slow activity)
  • Astigmatism
  • Mild nearsightedness (myopia)
  • Small earlobe
  • Flattened cheek bones (malar flattening)
  • High palate
  • Opening between left heart chambers (mitral valve prolapse)
  • Increased curvature of the spine (scoliosis, thoracolumbar scoliosis)
  • Narrowing of spinal canal (lumbar spinal canal stenosis, spinal stenosis with reduced interpedicular distance)
  • Compression fracture in spine (vertebral wedging)
  • Long and slender fingers (arachnodactyly)
  • Action tremor
  • Constipation
  • Infrequent menses (oligomenorrhea)
  • Disproportionate tall stature
  • Stretchmarks (striae distensae)
  • Café-au-lait spots
  • Sleep disturbance (obstructive sleep apnea)
  • Attention deficit hyperactivity disorder
  • Easy fatigue
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Autism
  • Fragile X syndrome
  • Huntington disease
  • Metabolic disorder
  • Micro-deletion/duplication disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms.

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
ATN1
Autosomal dominant
N/A
NM_001940.4
Repeat expansion - 65 repeats
N/A
Contact

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

Disclaimer

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