Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital

• Hlavní autoři: Khalid A. Alhasan (Autor), Walaa Alshuaibi (Autor), Muddathir H. Hamad (Autor), Suha Salim (Autor), Dima Z. Jamjoom (Autor), Aqeela H. Alhashim (Autor), Malak Ali AlGhamdi (Autor), Amal Y. Kentab (Autor), Fahad A. Bashiri (Autor)
• Médium: Kniha
• Vydáno: MDPI AG, 2022-09-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symme...