dyt5 [Neurosurgery Wiki]

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[[DYT5]] ([[GCH1]]): Also known as Segawa syndrome, DYT5 is caused by mutations in the GCH1 gene. It usually starts in childhood with diurnal fluctuations in symptoms and responds well to levodopa.

Dystonia-Plus Syndromes:

Some genetic dystonias are associated with additional neurological features, leading to the classification of dystonia-plus syndromes.

[[DYT11]] (SGCE): This is associated with myoclonus and psychiatric symptoms and is known as myoclonus-dystonia syndrome.

Paroxysmal Dystonias:

Some forms of dystonia are paroxysmal, meaning they occur in episodes rather than being continuous.
[[DYT8]] (PNKD): This form is associated with paroxysmal nonkinesigenic dyskinesia and can include dystonic movements during episodes.
Dystonia with Neurodegeneration:

Some genetic forms of dystonia are associated with neurodegenerative features.
[[DYT3]] ([[ATP1A3]]): Also known as rapid-onset dystonia-parkinsonism (RDP), this condition presents with abrupt onset dystonia and parkinsonism.
It's important to note that genetic dystonias can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Genetic testing is often employed to identify specific gene mutations associated with dystonia, providing valuable information for diagnosis and sometimes influencing treatment decisions