Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

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. 

Acknowledgement of MEPAN Syndrome has not been added yet.

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/

Synonyms for MEPAN Syndrome has not been added yet.

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.
Diagnosis of MEPAN Syndrome has not been added yet.

Whole exome sequencing

Whole genone sequencing

Alpha lipoic acid, medium chain triglyecrides

Prognosis of MEPAN Syndrome has not been added yet.
Tips or Suggestions of MEPAN Syndrome has not been added yet.
References of MEPAN Syndrome has not been added yet.
Logo

MEPAN Syndrome community discussions will be posted here.

There are no new discussions. Start one now!!

Community External News Link
Title Date Link
Community Resources
Title Description Date Link

Clinical Trials


Cords registry

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.

  1. Complete the screening form.
  2. Review the informed consent.
  3. 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.

Community Leaders

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.

 

 

Expert Questions

Ask a question

Community User List

<p>I&#39;m the father of tw...

Start a Community


Don't See Your Condition On Rareshare?

Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.

FAQ


Have questions about rareshare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.

Discussion Forum

Logo

MEPAN Syndrome community discussions will be posted here.

There are no new discussions. Start one now!!


Communities

Our Communities

Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.

FIND YOUR COMMUNITY
Physicians

Our Resources

Our rare disease resources include e-books and podcasts

VIEW OUR EBOOKS

LISTEN TO OUR PODCASTS

VIEW OUR GUIDES

Leaders

Our Community Leaders

Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.