Huntington disease-like syndrome due to C9ORF72 expansions

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Huntington disease-like syndrome due to C9ORF72 expansions?

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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.