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Huntington disease-like syndrome due to C9ORF72 expansions

ORPHA:401901· ICD-10 G10

Definition

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Adult