MovDisordV3, Main, Exploration, bibRecord, 002741

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

Identifieur interne : 002741 ( Main/Exploration ); précédent : 002740; suivant : 002742

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

Auteurs : Nardo Nardocci [Italie] ; Giovanna Zorzi [Italie] ; Chiara Barzaghi [Italie] ; Federica Zibordi [Italie] ; Claudia Ciano [Italie] ; Daniele Ghezzi [Italie] ; Barbara Garavaglia [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-01.

RBID : ISTEX:C90C84F8DC699362ECF3E4259F44E52C09272EDC

Descripteurs français

Pascal (Inist)
- Dystonie, Enfant, Maladie héréditaire, Myoclonie, Neurophysiologie, Pathologie du système nerveux, Pédiatrie.
Wicri :
- topic : Enfant, Pédiatrie.

English descriptors

KwdEn :
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Chromosomes, Human, Pair 7 (genetics), DNA Primers (genetics), DNA, Complementary (genetics), Disease Progression, Dystonia, Dystonia (epidemiology), Dystonia (genetics), Dystonia (physiopathology), Electromyography, Exons (genetics), Female, Follow-Up Studies, Genetic disease, Humans, Infant, Male, Middle Aged, Molecular Chaperones (genetics), Muscle, Skeletal (innervation), Muscle, Skeletal (physiopathology), Myoclonus, Myoclonus (epidemiology), Myoclonus (genetics), Myoclonus (physiopathology), Nervous system diseases, Neurophysiology, Pediatrics, Point Mutation (genetics), Protein Splicing (genetics), Sarcoglycans (genetics), Syndrome, Upper Extremity (physiopathology), clinical features, myoclonus–dystonia, neurophysiology, pediatric, ϵ‐sarcoglycan gene.
MESH :
- chemical , genetics : DNA Primers, DNA, Complementary, Molecular Chaperones, Sarcoglycans.
- epidemiology : Dystonia, Myoclonus.
- genetics : Chromosomes, Human, Pair 7, Dystonia, Exons, Myoclonus, Point Mutation, Protein Splicing.
- innervation : Muscle, Skeletal.
- physiopathology : Dystonia, Muscle, Skeletal, Myoclonus, Upper Extremity.
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Disease Progression, Electromyography, Female, Follow-Up Studies, Humans, Infant, Male, Middle Aged, Syndrome.

Abstract

Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation‐positive and ‐negative cases. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/C90C84F8DC699362ECF3E4259F44E52C09272EDC/fulltext/pdf

DOI: 10.1002/mds.21715

Affiliations:

Italie

Le document en format XML

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<term>Muscle, Skeletal</term>
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<term>Age of Onset</term>
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<front><div type="abstract" xml:lang="en">Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation‐positive and ‐negative cases. © 2007 Movement Disorder Society</div>
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Movement Disorders (revue)

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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	Movement Disorders (revue)
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