Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression resulting in intellectual disability and loss of language and ambulation associated with the appearance of dystonia parkinsonism chorea or rigidity. Ataxia dysarthria and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy in some patients also thinning of the corpus callosum.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Cache DNA
At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.