Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene.
|
18571946 |
2009 |
Myoclonus
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18].
|
23893446 |
2013 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
An 8-year-old boy presenting with early onset, medically intractable, MDS due to a mutation in the epsilon-sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia.
|
15197720 |
2004 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
One deceased patient with severe epilepsy and myoclonus could not be tested for the SGCE mutation.
|
24297365 |
2014 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.
|
16534121 |
2006 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia.
|
18175340 |
2008 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.
|
12900898 |
2003 |
Myoclonus
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Individuals with myoclonus should be tested for the epsilon-sarcoglycan gene (DYT-11).
|
16722965 |
2006 |
Myoclonus
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries.
|
18759336 |
2008 |
Myoclonus
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus-dystonia syndrome.
|
20684011 |
2010 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.
|
15389977 |
2004 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with myoclonus and SGCE mutations also showed an improvement in action myoclonus (95%-100%) and in functional tests (50%-75%) according to the Unified Motor-Rating Scale.
|
30028274 |
2018 |
Myoclonus
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles.
|
11528394 |
2001 |
Myoclonus
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|
Myoclonus
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
DYT11 myoclonus-dystonia (M-D) syndrome is a neurological movement disorder characterized by myoclonic jerks and dystonic postures or movement that can be alleviated by alcohol.
|
22438980 |
2012 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In the combined forms, dystonia is accompanied by parkinsonism (GCH1/DYT5a; TH/DYT5b; ATP1A3/DYT12; TAF1/DYT3) or myoclonus (SGCE/DYT11).
|
24262166 |
2014 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene.
|
19147379 |
2009 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Two positive and three negative SGCE mutation patients presenting with predominant myoclonus underwent Vim DBS.
|
30419400 |
2019 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We present a 74-year-old woman with inherited myoclonus-dystonia, with predominant myoclonus and a novel mutation in the epsilon-sarcoglycan gene.
|
19081669 |
2009 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We describe the myoclonus in patients with mutations in the SGCE gene and characterize the electrophysiologic pattern of this myoclonus.
|
18362280 |
2008 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia.
|
18175340 |
2008 |
Myoclonus
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This coherence was not present in DYT11 MC with mild (static) dystonia and/or predominating myoclonus.
|
17486590 |
2007 |