Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

Orpha code: 53583OMIM code: 601042

Definition

A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.

Disease data
Classification

Disease

Synonyms
DYT9
Choreoatetoza/spastyczność epizodyczna
DYT9
Episodic choreoathetosis/spasticity
ORPHA code
53583
OMIM code
601042
ICD10 code
G24.8
ICD11 code
-

No additional description.

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