Huntington disease-like 1
Synonyms: Early-onset prion disease with prominent psychiatric features | HDL1
A rare genetic human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes aggressiveness manias anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria apraxia aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances unsteadiness coordination problems) Parkinsonism myoclonus and/or chorea. Additional features may include generalized spasticity seizures urine incontinence and pyramidal abnormalities.
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 December 2023
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Huntington disease-like 1?
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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.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
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.
HD Reach
HD Reach is working to improve the care and quality of life of those affected by Huntington’s disease. Founded as a nonprofit in 2009, we provide connections to medical providers, referrals to local services, care management, family support, education, and anonymous genetic testing.
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.