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MCID: DYS193
MIFTS: 51
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Dystonia 11, Myoclonic
Categories:
Genetic diseases, Rare diseases, Neuronal diseases
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MalaCards integrated aliases for Dystonia 11, Myoclonic:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in childhood or adolescence (mean age of 6 years, range 1 to 18) variable pattern of body involvement although symptoms may predominate in upper or lower body symptoms are often responsive to alcohol maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother HPO:32
dystonia 11, myoclonic:
Onset and clinical course incomplete penetrance juvenile onset Inheritance autosomal dominant inheritance GeneReviews:24
Penetrance
Reduced penetrance on maternal transmission of the disease allele has been observed, suggesting that maternal genomic imprinting of sgce suppresses expression of the maternally inherited sgce allele [zimprich et al 2001]...
Classifications:
ICD10:
33
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NIH Rare Diseases
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53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 36899Disease definitionMyoclonus-dystoniasyndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.EpidemiologyThe estimated prevalence of MDS in Europe is 1/500,000.Clinical descriptionDisease onset usually occurs in the first or second decade of life. Myoclonus is usually the presenting manifestation and is described as swift ''lightning-like'' jerks that can rarely appear at rest but that are usually triggered by complex motor tasks such as drawing and writing. These movements mainly affect the neck, arms and trunk but can also rarely be seen in the legs or the larynx. In two thirds of cases, dystonia is also experienced in the form of focal or cervical dystonia (see these terms), which may be only mild and does not exacerbate with time. Postural and other forms of tremor have sometimes been reported. MDS is often associated with depression, anxiety, panic attacks, obsessive-compulsive behavior and personality disorders and alcohol abuse. Isolated torticollis is seen in extremely rare cases.EtiologyThe only known causative gene of MDS is the epsilon-sarcoglycan (SGCE) gene (7q21.3), encoding a transmembrane protein that is part of the dystrophin-associated glycoprotein complex found in skeletal and cardiac muscle. The epsilon-sarcoglycan protein is also abundant in monoaminergic neurons, cerebellar Purkinje cells, the cortex and the hippocampus of the brain. In one family with MDS, linkage to chromosome 18p has been reported (named DYT15), but the gene has not yet been identified.Diagnostic methodsDiagnosis is based on the presence of characteristic clinical symptoms. Neuroimaging studies are normal. Genetic molecular testing of SGCE can confirm the diagnosis.Differential diagnosisDifferential diagnosis includes cervical dystonia, Dopa-responsive dystonia, Tourette syndrome, familial cortical myoclonus, Wilson disease, spinocerebellar ataxia type 3 (SCA3) and type 14 (SCA14), ataxia with vitamin E deficiency, genetic disorders with myoclonus as a major component (e.g. Unverricht-Lundborg disease, Lafora disease) (see these terms) and other secondary forms of dystonia.Antenatal diagnosisPrenatal testing is possible in families where a disease-causing mutation is identified.Genetic counselingMDS is inherited in an autosomal dominant manner. However, the SGCE gene is maternally imprinted, therefore in most cases (95%) a patient who inherits the mutation from their mother will remain healthy and only those that inherit the mutation from their father will develop MDS. De novo mutations also occur. Genetic counseling is recommended in those with a known mutation.Management and treatmentTreatment plans are individualized to a patient's presenting symptoms. Benzodiazepines (clonazepam) and antiepileptic drugs (valproate, levetiracetam) are effective in relieving myoclonus and tremor, but patients should be carefully monitored. Similarly, alcohol frequently improves symptoms temporarily, but its long term use is not recommended. Injections of botulinum toxin can relieve focal and cervical dystonia. If these treatments fail or are insufficient, bilateral deep brain stimulation (DBS) of the internal globus pallidum (Gpi) and the central intermediate nucleus (VIM) of the thalamus have shown positive results in providing lasting relief from both myoclonus and dystonia. Gpi stimulation is often sufficient in treating MDS, and may be favored over VIM stimulation, which generally has very little effect on dystonia. In a staged surgical procedure, quadruple stimulation (VIM and Gpi) may also be considered in selected cases.PrognosisPatients with MDS have normal life-expectancy, but quality of life can be severely affected.Visit the Orphanet disease page for more resources.
MalaCards based summary : Dystonia 11, Myoclonic, also known as myoclonic dystonia, is related to dystonia and dystonia 26, myoclonic, and has symptoms including torticollis and tremor. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon), and among its related pathways/superpathways are Neuroscience and Alpha-synuclein signaling. The drugs Zonisamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and cortex, and related phenotypes are torticollis and depressivity Disease Ontology : 12 A dystonia characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first of second decade of life. Genetics Home Reference : 25 Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis). OMIM : 57 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities (Valente et al., 2003; Schule et al., 2004). (159900) UniProtKB/Swiss-Prot : 75 Dystonia 11, myoclonic: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. Wikipedia : 76 Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...
GeneReviews:
NBK1414
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:159900Human phenotypes related to Dystonia 11, Myoclonic:32 (show all 13)
UMLS symptoms related to Dystonia 11, Myoclonic:torticollis, tremor GenomeRNAi Phenotypes related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Dystonia 11, Myoclonic:46
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Drugs for Dystonia 11, Myoclonic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: myoclonus |
MalaCards organs/tissues related to Dystonia 11, Myoclonic:41
Testes,
Brain,
Cortex,
Thalamus,
Cerebellum
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Articles related to Dystonia 11, Myoclonic:
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Dystonia 11, Myoclonic:75 (show all 13)
ClinVar genetic disease variations for Dystonia 11, Myoclonic:6
Copy number variations for Dystonia 11, Myoclonic from CNVD:7
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Search
GEO
for disease gene expression data for Dystonia 11, Myoclonic.
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Cellular components related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:
Biological processes related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:
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