Huntington disease-like syndrome due to C9ORF72 expansions
Synonyms: C9ORF72-related Huntington disease phenocopy | C9ORF72-related Huntington disease-like syndrome | Huntington disease phenocopy due to C9ORF72 expansions
A rare genetic neurodegenerative disease characterized by movement disorders including dystonia chorea myoclonus tremor and rigidity. Associated features are also cognitive and memory impairment early psychiatric disturbances and behavioral problems.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Huntington disease-like syndrome due to C9ORF72 expansions?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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 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 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
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.
For a list of clinical trials in this disease area, please click here.