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Participant 097


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 9, with spastic diplegia, low bone mineral density, and global developmental delay

Date of Report

Nov 28, 2018

Description

At age 2, the participant started to have frequent falls and difficulty getting up from the ground after falling. Her parents started to notice that her muscles would tighten and that she would walk with an abnormal gait (toe-walking). Although the participant said her first word at age 2, she did not speak in full sentences until age 3. Currently she can count to 15, read some words, and write her letters. In terms of her motor development, she can walk with support and utilizes a wheelchair when moving longer distances. Some of her other symptoms include curvature of the spine (scoliosis) and generalized bone demineralization.

Symptoms / Signs
  • Tightened muscles of legs, hips, and pelvis (spastic diplegia)
  • Generalized bone demineralization
  • Curvature of spine (scoliosis)
  • Global developmental delay
  • Intellectual disability
  • Impaired toileting ability
Current Treatments
  • Ankle Foot Orthoses (AFOs)
Prior Treatments
  • Botox injections, tendon release surgery – spastic diplegia
  • Carbidopa, levodopa – contractures
Considered treatments
Previously Considered Diagnoses
  • Hereditary spastic paraplegia
  • Metabolic condition
  • Microdeletion/duplication syndrome
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:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
COPB2
Autosomal dominant
chr3:g.139081338dup
NM_004766.2
c.1906dupA
p.Thr636AsnfsTer7
Contact

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

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