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Three Cases of Levodopa-Carbidopa Responsive Nocturnal Akinesis in Male Children of an Inbred Family in Rural Baluchistan, Pakistan

2026-02-11

Abstract excerpt

After following up of more than 9 years, we report three affected male siblings from a consanguineous family (PKSOK) in rural Baluchistan, Pakistan, presenting with a novel, levodopa/carbidopa-responsive Nocturnal Akinesia Syndrome (NAS). Clinical features include nocturnal hypotonia, developmental delay, mild intellectual disability, speech impairment, and psychomotor delay without classical metabolic crises or s...

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Literature Corpus work
99507773-40e7-5d9d-9452-591cebc1ac35
DOI
10.20944/preprints202602.0871.v1
Open publication

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Three Cases of Levodopa-Carbidopa Responsive Nocturnal Akinesis in Male Children of an Inbred Family in Rural Baluchistan, PakistanDOI 10.20944/preprints202602.0871.v1
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