background participants

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


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:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant
Chr 3: 139081337_ 139081338insT

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.