Talk:Dopamine-responsive dystonia

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I'm fairly certain the correct name of this disorder is "dopa-responsive dystonia," not "dopamine-responsive dystonia." Please verify. Thanks. 99.10.121.2 (talk) 06:37, 25 May 2015 (UTC)[reply]

See source below, which refers to dopamine. Levodopa (L-DOPA) is a precursor of dopamine which is why it is used in the treatment. JFW | T@lk 11:13, 21 September 2015 (UTC)[reply]

Review of diagnosis

doi:10.1136/practneurol-2015-001101 JFW | T@lk 11:13, 21 September 2015 (UTC)[reply]

Most common name and moving

Given the variety of names, I checked which was the most common. I used both Google proper and Google Scholar. They agreed that Segawa syndrome was the most common name by far. For this reason, I've moved the article to this name and rewritten it slightly.

Google Scholar:

--Deleet (talk) 17:05, 24 November 2016 (UTC)[reply]

Looks like it intersects with BH4 deficiency

This 2021 review of DOPA-responsive dystonia lists 6 conditions which almost completely overlap with the list of 6 conditions comprising tetrahydrobiopterin deficiency listed in this consensus guideline. Looks like BH4 deficiency and DOPA-responsive dystonia are two ways to look at processes which are heavily intertwined. --CopperKettle (talk) 16:26, 18 June 2022 (UTC)[reply]

Rare causes beyond the dopamine metabolism pathways

From a 2015 review in Nature Rev Neurol (PMID 26100751):

In rare cases, DRD can result from conditions that do not affect the biosynthesis of dopamine; single case reports have shown that DRD can be a manifestation of hereditary spastic paraplegia type 11, spinocerebellar ataxia type 3 and ataxia telangiectasia.

--CopperKettle (talk) 18:50, 20 June 2022 (UTC)[reply]