Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)

Rachad, Laila; Kadmiri, Nadia El; Otmani, Hicham El; Nadifi, Sellama

doi:10.1007/s12035-016-9712-x

Cited by 25 publications

(30 citation statements)

References 41 publications

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“…One patient (IV:2) from our described family presented mild phenotypic features of myopathy: supraclavicular triangle, gothic palate, and periodic choking. The patient has a mutation in the SGCE gene, which is located in the chromosomal region 7q21-q31 [2]. It is interesting that there is a locus nearby for the genes responsible for the formation of two forms of autosomal dominant inherited limb-girdle muscular dystrophy: LGMD 1D in locus 7q36 and LGMD 1F in locus 7q32 [16].…”

Section: Discussionmentioning

confidence: 99%

“…It is interesting that there is a locus nearby for the genes responsible for the formation of two forms of autosomal dominant inherited limb-girdle muscular dystrophy: LGMD 1D in locus 7q36 and LGMD 1F in locus 7q32 [16]. The SGCE gene encodes the ε-sarcoglycan protein, which is one of the six isoforms of the transmembrane glycoprotein, while mutations of the genes encoding the other four isoforms of this protein (α-, β-, γ-and δ-sarcoglycan) are associated with the occurrence of limb-girdle dystrophies [2]. Although some mild myopathic changes were found on electromyography, muscle biopsy did not confirm dystrophic or myopathic changes.…”

Section: Discussionmentioning

confidence: 99%

“…The gene associated with the development of the disease is the SGCE gene encoding ε-sarcoglycan, located on chromosome 7q. However, mutations in the SGCE gene are present only in 30-50% of patients with MDS [2,3]. In the remaining cases, more than 50 different mutations have been identified, which demonstrates the genetic heterogeneity of the disease [4].…”

Section: Introductionmentioning

confidence: 99%

“…Myoclonus is the dominant symptom, which usually concerns the arms and axial muscles. Accompanying dystonia is usually mild, and often manifests itself as cervical dystonia or writer's cramp [6] and occurs in more than 50% of patients [2].…”

Section: Introductionmentioning

confidence: 99%

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

Kaczyńska

Jamrozik

Szubiga

et al. 2020

Neurol Neurochir Pol.

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Kaczyńska

Jamrozik

Szubiga

et al. 2020

Neurol Neurochir Pol.

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“…Myoclonus-dystonia is characterized by lightning-like myoclonic jerks and dystonic symptoms which usually emerges in the first two decades of life [53]. In most patients with myoclonus-dystonia, mutations in the epsilon-sarcoglycan gene (SGCE) gene are found (DYT11).…”

Section: Inherited Combined Dystoniamentioning

confidence: 99%

Quality of life outcomes after deep brain stimulation in dystonia: A systematic review

Tsuboi

Wong

Okun

et al. 2020

Parkinsonism & Related Disorders

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Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

et al. 2019

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A BS TRACT: Myoclonus-dystonia is a clinical syndrome characterized by a typical childhood onset of myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric symptomatology, namely, alcohol dependence and phobic and obsessive-compulsive disorder, is also part of the clinical picture. Zonisamide has demonstrated effectiveness at reducing both myoclonus and dystonia, and deep brain stimulation seems to be an effective and long-lasting therapeutic option for medication-refractory cases. In a subset of patients, myoclonus-dystonia is associated with pathogenic variants in the epsilon-sarcoglycan gene, located on chromosome 7q21, and up to now, more than 100 different pathogenic variants of the epsilon-sarcoglycan gene have been described. In a few families with a clinical phenotype resembling myoclonus-dystonia associated with distinct clinical features, variants have been identified in genes involved in novel pathways such as calcium channel regulation and neurodevelopment. Because of phenotypic similarities with epsilon-sarcoglycan gene-related myoclonus-dystonia, these conditions can be collectively classified as "myoclonusdystonia syndromes." In the present article, we present myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations, with a focus on genetics and underlying disease mechanisms. Second, we review those conditions falling within the spectrum of myoclonus-dystonia syndromes, highlighting their genetic background and involved pathways. Finally, we critically discuss the normal and pathological function of the epsilon-sarcoglycan gene and its product, suggesting a role in the stabilization of the dopaminergic membrane via regulation of calcium homeostasis and in the neurodevelopmental process involving the cerebello-thalamo-pallido-cortical network.

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Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)

Cited by 25 publications

References 41 publications

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

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

Quality of life outcomes after deep brain stimulation in dystonia: A systematic review

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

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