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 severity due to a novel heterozygous splicing variant in SGCE (c.341-2A>G), including a 13-year-old female who presented with disabling dystonic spasms, myoclonic jerks, and psychiatric symptoms. She had shown little or no response to several conventional MDS treatments. However, disabling axial dystonia was significantly improved by sodium oxybate (1 g, twice daily). Although there was less effect on myoclonus, sodium oxybate treatment significantly improved the overall quality of life at the 3-years follow-up. Clinical trials are warranted to assess the clinical efficacy and safety of sodium oxybate for MDS-associated dystonia.

Malak Ali Alghamdi

Muddathir H. Hamad

Isra Alghamdi

Ghiada Alghamdi

Muneera Al‐Jelaify

Sohaila Alshimemeri

Hebattalah Hamed

Nouran Adly

Mustafa A. Salih

Naif A. Almontashiri

Fahad A. Bashiri

American Journal of Medical Genetics Part A

美国医学遗传学杂志 - A 部分 (AJMG) 为您提供遗传疾病和出生缺陷的所有生物学和医学方面的持续报道，以及在当前基因型/表型相关性的背景下深入记录表型分析。除了 A 部分，AJMG 还出版了另外两个部分： B 部分：神经精神遗传学，涵盖了对神经和精神疾病遗传机制的实验和临床研究。 C 部分：医学遗传学研讨会，客座编辑的主题评论合集AJMG 读者的热门话题。

The American Journal of Medical Genetics, Part A focuses on the biological and medical aspects of genetic disorders and birth defects, providing ongoing research and in-depth analysis of phenotype in the context of current genotype/phenotype correlations. In addition to Part A, AJMG publishes two other parts: Part B, which covers experimental and clinical studies on the genetic mechanisms of neuropsychiatric disorders; and Part C, which is a collection of themed reviews edited by guest editors on topics of interest to AJMG readers.

《American Journal of Medical Genetics, Part A》（美国医学遗传学杂志 - A 部分）专注于遗传疾病和出生缺陷的生物学与医学各个方面的持续研究，深入探讨基因型与表型之间的关系。除了 A 部分外，AJMG 还出版了两个其他部分：B 部分专注于神经精神遗传学，涵盖神经和精神疾病的遗传机制的实验与临床研究；C 部分则是医学遗传学研讨会，汇集了客座编辑对AJMG读者感兴趣的热门话题的评论合集。

Category	Quartile
生物学	4
生物学, 遗传学	4

Sodium Oxybate‐Treated Familial Myoclonus‐Dystonia Syndrome Due to Novel SGCE Variant

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Journal Info

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GENETICS & HEREDITY	3