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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. 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.

 

Male, age 16, with aromatic l-amino acid decarboxylase deficiency caused by changes in the DDC gene

Date of Report

Jan 09, 2019

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

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
DDC
Autosomal recessive
chr7:g.50597030C>G
NM_000790.3
c.446G>C
p.Ser149Thr
Contact

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

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