background participants

Participant 094


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.

 

Male, age 16 with global developmental delay, absent speech, intellectual disability, and involuntary muscle contractions (dystonia)

Date of Report

Nov 07, 2018

Description

The participant was born early at 34 weeks, but was healthy for the first few months of life. At the age of three and a half months, he had a fever that required hospital admission. Since then, he has experienced involuntary muscle contractions (dystonia) and has not been able to hold his head up, sit, stand, or walk unassisted. He uses a walker but he has become weaker over time. When he is hungry or very cold, he becomes extremely tense and cannot move his eyes. He also has increased reflexes (hyperreflexia), contractures of the fingers and wrists, narrow fingertips (tapered fingers), a small jaw (micrognathia), and posteriorly rotated ears.

Symptoms / Signs
  • Intellectual disability
  • Absent speech
  • Global developmental delay
  • Seizures
  • Involuntary muscle contractions (dystonia of lower extremities)
  • Increased reflexes (hyperreflexia)
  • Inability to walk
  • Muscle wasting (distal amyotrophy, generalized amyotrophy)
  • Low muscle tone (muscular hypotonia)
  • Difficulty breathing while sleeping (obstructive sleep apnea)
  • Narrow fingertips (tapered fingers)
  • Inability to straighten wrists and fingers (wrist and finger flexion contracture)
  • Low bone density (osteopenia)
  • Club feet (bilateral talipes equinovarus)
  • Poor head control
  • Cerebral palsy
  • Sloping forehead
  • Posteriorly rotated ears
  • Small jaw (micrognathia)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Fragile X syndrome
  • Microdeletion/microduplication disorders
Other Photographs
Genetic Variants of Interest
Contact

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

Disclaimer

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.