MEPAN Syndrome
What is MEPAN Syndrome?
MEPAN Syndrome is an ultra-rare neurodegenerative mitochondrial condition that is caused by mutations to the MECR gene. It results in impaired mitochondrial fatty acid synthesis and causes childhood-onset dystonia or ataxia, and commonly includes dysarthria, muscle weakness, hypotonia, spasticity, and optic atrophy.
MEPAN Syndrome is an ultra-rare neurodegenerative mitochondrial condition that is caused by mutations to the MECR gene. It results in impaired mitochondrial fatty acid synthesis and causes childhood-onset dystonia or ataxia, and commonly includes dysarthria, muscle weakness, hypotonia, spasticity, and optic atrophy.
Only 14 individuals from nine families have been diagnosed with MECR-related neurologic disorder to date. Five of the nine families were of Ashkenazi Jewish origin, suggesting possible increased prevalence in this population [Heimer et al 2016 and personal communication].
Unpublished results based on the Inflammatory Bowel Disease Exomes Browser containing over 5,500 exomes of Ashkenazi Jewish individuals revealed an increased frequency of two pathogenic variants among the Ashkenazi Jewish population:
- c.695G>A missense variant in 18/5,598; variant frequency of 1:311
- c.830+2dupT splice site variant in 41/5,576; variant frequency of 1:136
Source: https://www.ncbi.nlm.nih.gov/books/NBK540959/
MEPAN Foundation - www.mepan.org
Dystonia, ataxia, dysarthria, optic atrophy, T-2 hyperinensity in the basal ganglia, specifically the caudate, putamen, and global pallidi
| Name | Description |
|---|---|
| Ataxia | Loss of the ability to coordinate muscle movement |
| Muscle weakness | Muscle weakness |
| (R) Developmental Delays | Development Delays vary |
| Spasticity | Spasticity |
| Optic atrophy | Optic atrophy in late onset form |
| Dysarthria | Dysarthria |
| Abnormal Brain MRI Scans | Abnormal Brain MRI Scans |
| Hypotonia | A state of low muscle tone. |
Whole exome sequencing
Whole genone sequencing
Alpha lipoic acid, medium chain triglyecrides
Last updated 24 Jul 2019, 05:06 AM
24 Jul 2019, 05:06 AM
In May 2019 the Gene Review for MEPAN Syndrome - caused by mutations to the MECR gene - was published. It's an important online resource to help create more awareness for the condition and help clinicans diagnose their patients. The are surely more MEPAN patients to be found as people with a previous diagnosis of cerebral palsy, childhood-onset dystonia, or Juvenile Parkinsons undergo genetic testing to explore the underlying cause of their condition.
| Title | Description | Date | Link |
|---|---|---|---|
| MECR/MEPAN Gene Review |
GeneReview for MECR/MEPAN Syndrome that deescribes the clinical manifestations and recommended treatment protocol, published in May 2019. |
09/20/2019 | |
| MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder |
Research Paper that first describes MEPAN Syndrome in 2016. |
09/20/2019 |
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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sfcomms
I'm the father of two boys with an ultrarare neurodegenerative mitochondrial disease called MEPAN Syndrome. It's caused by mutations on the MECR gen and results in impaired mitochondrial fatty acid synthesis. MEPAN presents with early-onset childhood dystonia, ataxia, dysarthria, and optic atrophy. There are no 14 MEPAN patients globally and no proven treatments that can help.
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MEPAN Syndrome Gene Review
Created by sfcomms | Last updated 24 Jul 2019, 05:06 AM
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