Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.
cirrhosis
dystonia
manganese
parkinsonism
Journal
Movement disorders clinical practice
ISSN: 2330-1619
Titre abrégé: Mov Disord Clin Pract
Pays: United States
ID NLM: 101630279
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
received:
25
12
2021
revised:
23
05
2022
accepted:
06
06
2022
entrez:
17
10
2022
pubmed:
18
10
2022
medline:
18
10
2022
Statut:
epublish
Résumé
Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport. We aimed to describe clinical, laboratory features, and outcomes among children with HMNDYT. We conducted a retrospective multicenter study involving tertiary centers across India. We enrolled children between 1 month to 18 years of age with genetically confirmed/clinically probable HMNDYT. Clinical, laboratory profile, genetic testing, treatment details, and outcomes scored by treating physicians on a Likert scale were recorded. We enrolled 27 children (19 girls). Fourteen harbored We found female predominance. Children with
Sections du résumé
Background
UNASSIGNED
Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport.
Objectives
UNASSIGNED
We aimed to describe clinical, laboratory features, and outcomes among children with HMNDYT.
Methods
UNASSIGNED
We conducted a retrospective multicenter study involving tertiary centers across India. We enrolled children between 1 month to 18 years of age with genetically confirmed/clinically probable HMNDYT. Clinical, laboratory profile, genetic testing, treatment details, and outcomes scored by treating physicians on a Likert scale were recorded.
Results
UNASSIGNED
We enrolled 27 children (19 girls). Fourteen harbored
Conclusions
UNASSIGNED
We found female predominance. Children with
Identifiants
pubmed: 36247901
doi: 10.1002/mdc3.13516
pii: MDC313516
pmc: PMC9547147
doi:
Types de publication
Journal Article
Langues
eng
Pagination
886-899Informations de copyright
© 2022 International Parkinson and Movement Disorder Society.
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