Гантінгтон-подібний синдром, зумовлений експансією C9ORF72
ORPHA:401901· ICD-10 G10· Huntington disease-like syndrome due to C9ORF72 expansions
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adult