Article
Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.
American journal of medical genetics. Part A - 1 May 2025
Alghamdi Malak Ali, Hamad Muddathir H, Alghamdi Isra, Alghamdi Ghiada, Al-Jelaify Muneera, Alshimemeri Sohaila, Hamed Hebattalah, Adly Nouran, Salih Mustafa A, Almontashiri Naif A, Bashiri Fahad A
Abstract excerpt
Myoclonus-dystonia syndrome (MDS, OMIM #159900) is an autosomal-dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (SGCE) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities. Patients with MDS have a normal life expectancy with markedly reduced quality of life. Here, we report four family members diagnosed with MDS of variable...
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