questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Génome
Composants de génome
Gènes
Composants de gène
Éléments de régulation transcriptionnelle
Régions promotrices (génétique)
Éléments de réponse
Éléments de réponse : Questions médicales fréquentes
Termes MeSH sélectionnés :
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A 23-year-old woman with pantothenate kinase-associated neurodegeneration (PKAN) presented with medication-refractory generalized dystonia and an associated gait impairment....
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PKAN is a rare neurodegenerative disorder and evidence supporting the use of PKAN DBS has been largely limited to case reports and case series. Consequently, there is a paucity of long-term data, espe...
The clinical characteristics of dystonia that respond to DBS tend to respond in PKAN. Clinicians counselling patients about the effects of DBS for PKAN should thoughtfully discuss gait and postural in...