MCID: DPR013
MIFTS: 4

Dopa-Responsive Dystonia; Segawa Syndrome Ad

Categories: Rare diseases

Aliases & Classifications for Dopa-Responsive Dystonia; Segawa Syndrome Ad

MalaCards integrated aliases for Dopa-Responsive Dystonia; Segawa Syndrome Ad:

Name: Dopa-Responsive Dystonia; Segawa Syndrome Ad 50
Dyt-Gch1 50

Classifications:



Summaries for Dopa-Responsive Dystonia; Segawa Syndrome Ad

NIH Rare Diseases : 50 dopa-responsive dystonia (drd) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. depending on the specific type of drd, specific symptoms can vary. features can range from mild to severe. in most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. affected people also often develop a group of movement abnormalities called parkinsonism. although movement difficulties usually worsen with age, they often stabilize around age 30. drd may be caused by mutations in the gch1, th or spr genes, or the cause may be unknown. depending on the genetic cause, drd may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. this form of dystonia is called 'dopa-responsive' dystonia because the symptoms typically improve during treatment with levodopa and carbidopa. last updated: 4/30/2015

MalaCards based summary : Dopa-Responsive Dystonia; Segawa Syndrome Ad, also known as dyt-gch1, is related to dystonia, dopa-responsive, with or without hyperphenylalaninemia.

Related Diseases for Dopa-Responsive Dystonia; Segawa Syndrome Ad

Diseases related to Dopa-Responsive Dystonia; Segawa Syndrome Ad via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive, with or without hyperphenylalaninemia 10.8

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