background participants

Participant 032

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 5, with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally) caused by changes in the MECR gene

Date of Report

Aug 22, 2017


At 6 months, the patient was not sitting or rolling and was found to have low muscle tone (hypotonia). Over time, his hypotonia has become more noticeable and currently he is unable to stand or walk. He has also developed involuntary muscle contractions (dystonia) and problems with coordination (ataxia). The patient does not communicate verbally, but receptive language is intact, and does use an assistive communication device. He is very social and engaged. The patient has been diagnosed with MEPAN syndrome, a mitochondrial fatty acid synthesis disorder that presents with childhood onset dystonia, optic atrophy, and abnormal MRI findings in the basal ganglia.

His younger brother (picture below) is similarly affected, and ataxic symptoms have slightly worsened.

Symptoms / Signs

Shared symptoms:

  • Global developmental delay
  • Problems with coordination (ataxia)
  • Low muscle tone (hypotonia)
  • Abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally)
  • Optic nerve pallor
  • Overlapping toes

Older participant only:

  • Dystonia

Younger participant only:

  • Droopy eyes (ptosis)
  • Birthmark (nevus)
  • Abnormal crease on the palm of the hand (bridged palmar crease)
  • Food and environmental allergies/sensitivities
  • Constipation
Current Treatments
  • Alpha lipoic acid
  • Baclofen (older sibling)
Prior Treatments
  • Levodopa
  • Trihexyphenidyl
  • Folinic acid
Considered treatments
  • Triheptanoin
  • Idebenone
Previously Considered Diagnoses
  • Chromosomal disorder (karyotype and array- normal)
  • Friedreich’s ataxia (testing negative)
  • Metabolic condition (testing negative)
  • Leigh-like syndrome
Other Photographs
Genetic Variants of Interest

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

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive
chr1:g.29527026dup & chr1:g.29557457C>G
c.830+2dup & c.-39G>C

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.