A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.
Myoclonus
dystonia
education
genetic counseling
movement disorders
myoclonus-dystonia
Journal
Tremor and other hyperkinetic movements (New York, N.Y.)
ISSN: 2160-8288
Titre abrégé: Tremor Other Hyperkinet Mov (N Y)
Pays: England
ID NLM: 101569493
Informations de publication
Date de publication:
2023
2023
Historique:
received:
12
06
2023
accepted:
05
08
2023
medline:
29
8
2023
pubmed:
28
8
2023
entrez:
28
8
2023
Statut:
epublish
Résumé
Epsilon-sarcoglycan (SGCE) myoclonus-dystonia is autosomal dominant (AD) with reduced penetrance due to maternal imprinting 95% of the time. Patients may lack family history delaying diagnosis and treatment. Additionally, counseling patients on their risk of passing on the variant differs for females versus males. A woman in her thirties with typical phenotype of myoclonus-dystonia but lacking an AD pedigree was found to have a pathogenic variant in the SGCE gene. She was counseled that her daughters each have a 2.5% chance of expressing the phenotype. Understanding the genetics of SGCE-myoclonus-dystonia enables effective genetic counseling and arrival at a timely diagnosis and treatment. In an era of advancing genetic analysis and precision medicine-based treatments, neurologists will be faced with increasing responsibility to properly counsel patients on the results of genetic testing. This case highlights a genetics pearl for counseling patients with epsilon-sarcoglycan myoclonus-dystonia, an autosomal dominant condition with penetrance differing by sex.
Sections du résumé
Background
Epsilon-sarcoglycan (SGCE) myoclonus-dystonia is autosomal dominant (AD) with reduced penetrance due to maternal imprinting 95% of the time. Patients may lack family history delaying diagnosis and treatment. Additionally, counseling patients on their risk of passing on the variant differs for females versus males.
Case Report
A woman in her thirties with typical phenotype of myoclonus-dystonia but lacking an AD pedigree was found to have a pathogenic variant in the SGCE gene. She was counseled that her daughters each have a 2.5% chance of expressing the phenotype.
Discussion
Understanding the genetics of SGCE-myoclonus-dystonia enables effective genetic counseling and arrival at a timely diagnosis and treatment.
Summary
In an era of advancing genetic analysis and precision medicine-based treatments, neurologists will be faced with increasing responsibility to properly counsel patients on the results of genetic testing. This case highlights a genetics pearl for counseling patients with epsilon-sarcoglycan myoclonus-dystonia, an autosomal dominant condition with penetrance differing by sex.
Identifiants
pubmed: 37637852
doi: 10.5334/tohm.783
pmc: PMC10453946
doi:
Substances chimiques
Sarcoglycans
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
24Informations de copyright
Copyright: © 2023 The Author(s).
Déclaration de conflit d'intérêts
The authors have no competing interests to declare.
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