Huntington disease-like 1

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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 July 2024

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Huntington disease-like 1?

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Advocacy Organizations

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.