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  • Writer's pictureyannick-robin eike mirko

Rare Disease Daily #21: 2,4-Dienoyl-CoA Reductase Deficiency

T-MINUS 261 DAYS UNTIL RARE DISEASE DAY


Hello all, hope you’re well. There was a break in dailies due to the change in climate last week in New York City, bringing its effects to the disabled communities in a heavier way than for some others. I appreciate your patience with the space between these moments of awareness as physical safety changes for those around us. I hope the states affected by the wildfires are doing better now.


The National Center for Advancing Translational Sciences describes 2,4-Dienoyl-CoA Reductase Deficiency as being associated with decreased muscle tone and respiratory acidosis in infancy, which is a condition where your lungs aren’t able to get all of the carbon dioxide your body is producing, out of it. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance, which is when two parents have a recessive rare disease gene and have a child together, manifesting a new disease. Death in childhood is likely to occur, and as they grow there is a chance of developing epilepsy, spastic quadriplegia which is the most severe form of cerebral palsy effecting both the arms and legs, and other complications.


The prevalence of this disease is less than one in one million, with its onset appearing during infancy and the syndrome only being diagnosed in less than one thousand patients in the United States, to date. It has been identified/diagnosed using comparative genomic hybridization (CGH) microarray, is a technique used to detect chromosomal copy number changes on a high-resolution scale. Organizations like Chromosome Disorder Outreach and Unique: Understanding Rare Chromosome and Gene Disorders are helpful resources in finding communities already supporting the cause, and vetting out ways to get help that will hopefully improve the quality of life of patients and families living with the experience of this disorder.



There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.


Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, other people like me. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally offensive in the studies regarding these disorders will be neutralized to the best of my ability.


English and Spanish transcripts available at yannickmirko.com.


This was Rare Disease Daily #21, 2,4-Dienoyl-CoA Reductase Deficiency.


I’m yannick-robin. Thank you for your time.



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