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Huntington disease-like syndrome due to C9ORF72 expansions

Disease definition

Huntington disease-like syndrome due to C9ORF72 expansions is 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.

ORPHA:401901

Classification level: Disorder
  • Synonym(s):
    • C9ORF72-related Huntington disease phenocopy
    • C9ORF72-related Huntington disease-like syndrome
    • Huntington disease phenocopy due to C9ORF72 expansions
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G10
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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