open access

Vol 54, No 1 (2020)
Research Paper
Submitted: 2019-07-19
Accepted: 2019-09-28
Published online: 2020-01-20
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Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

Justyna Kaczyńska1, Zygmunt Jamrozik1, Michał Szubiga2, Monika Rudzińska-Bar3, Piotr Janik1
·
Pubmed: 31956970
·
Neurol Neurochir Pol 2020;54(1):33-38.
Affiliations
  1. Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland
  2. Department of Medical Genetics, Institute of Pediatrics, Faculty of Medicine, Jagiellonian University Medical College, Wielicka 265, 30-663 Krakow, Poland
  3. Department of Neurology, Andrzej Frycz Modrzewski Krakow University, Faculty of Medicine and Health Sciences, G. Herlinga-Grudzinskiego 1, 30-705 Krakow, Poland

open access

Vol 54, No 1 (2020)
Research papers
Submitted: 2019-07-19
Accepted: 2019-09-28
Published online: 2020-01-20

Abstract

Aim of the study. This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.

Clinical rationale for the study. Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice.

Materials and methods. A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded.

Results. The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mild
phenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere.

Conclusions and clinical implications. Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms.

Abstract

Aim of the study. This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.

Clinical rationale for the study. Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice.

Materials and methods. A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded.

Results. The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mild
phenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere.

Conclusions and clinical implications. Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms.

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Keywords

myoclonus-dystonia syndrome, MDS, DYT11, SGCE

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About this article
Title

Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 54, No 1 (2020)

Article type

Research Paper

Pages

33-38

Published online

2020-01-20

Page views

1082

Article views/downloads

976

DOI

10.5603/PJNNS.a2020.0005

Pubmed

31956970

Bibliographic record

Neurol Neurochir Pol 2020;54(1):33-38.

Keywords

myoclonus-dystonia syndrome
MDS
DYT11
SGCE

Authors

Justyna Kaczyńska
Zygmunt Jamrozik
Michał Szubiga
Monika Rudzińska-Bar
Piotr Janik

References (16)
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