Disease #01451 (DYT11 (dystonia, myoclonic, type 11 (DYT11)), OMIM:159900)

Official abbreviation DYT11
Name dystonia, myoclonic, type 11 (DYT11)
OMIM ID 159900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 19
Phenotype entries for this disease 18
Associated with 1 gene SGCE
Associated tissues -
Disease features myoclonic jerks affecting mostly proximal muscles; dystonia, usually torticollis or writer's cramp, observed in most patients, occasionally the only symptom; onset usually first or second decade; symptoms often respond to alcohol, patients may have psychiatric abnormalities
Remarks maternal inheritance most without clinical symptoms
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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00029649 - PubMed: Groen 2015 4-generation famil, 5 affecteds (4F, 1M) - no Netherlands - - - - - DYT11 see paper; cervical/axial dystonia at rest, writer’s cramp, action-induced foot dystonia with walking, myoclonic jerks legs/arms, increasing with action, positive effect of alcohol on jerks, complaints of hyperventilation or panic attacks; high-frequency continuous myoclonus legs while standing, causing unsteadiness; 3/5 cases cardiac arrhythmias, attacks of painful cramps upper/lower limbs CACNA1B, SPTAN1, VPS13D CACNA1B, SPTAN1, VPS13D 3 5 Johan den Dunnen
00072203 25868953-FamPatIII2 PubMed: Wada 2015, Journal: Wada 2015 3-generation family, affected boy, father and uncle, asymptomatic heterozygous carrier grandfather M no Japan Japanese >06y - - - DYT11 see paper; ..., delay in motor development (HP:0001270), dystonia (HP:0001332), myoclonus (HP:0001336) SGCE SGCE 1 4 Jamie Zeegers
00072225 24716024-FamPatII2 PubMed: Uruha 2014, Journal: Uruha 2014 3-generation family, 8-affecteds (5F, 3M) F no Japan Japanese >42y - - - DYT11 psychiatric symptoms (HP:0000708), anxiety (HP:0000739), phobia (HP:?), jerking movement (HP:0007087), exaggerated startle response (HP:0002267) SGCE SGCE 1 8 Jamie Zeegers
00072226 26810467-Pat2 PubMed: Rocha 2016, Journal: Rocha 2016 family, patient’s father and two paternal uncles had alcohol-responsive myoclonus M - Portugal - >20y - - - DYT11 upper limb muscle jerking (HP:0007087), dystonic posture (HP:0001332), laterocollis (HP:0000473) SGCE SGCE 1 1 Jamie Zeegers
00072230 24297365-FamPatIII3 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 3-generation family, 7 affecteds (2F, 4M, fetus), 4 unaffected heterozygous carriers (inherited maternally) F no Norway Norwegian - - - - DYT11 upper limb and neck myoclonus (HP:0001336), no dystonia (HP:0001332), no seizures in childhood (-HP:0001250), generalized spike-wave activity (HP:0001326) SGCE SGCE 1 11 Jamie Zeegers
00072231 24297365-FamPatIII5 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - M no Norway Norwegian - - - - DYT11 upper limb myoclonus (HP:0001336), no dystonia (-HP:0001332), generalized tonic–clonic seizures (HP:0002069), generalized polyspike wave activity (HP:?) SGCE SGCE 1 1 Jamie Zeegers
00072232 24297365-FamPatIII8 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - M - Norway Norwegian - - - - DYT11 upper limb myoclonus (HP:0001336), no dystonia (-HP:0001332), febrile seizures (HP:0002373) SGCE SGCE 1 1 Jamie Zeegers
00072233 24297365-FamPatIII9 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - M no Norway Norwegian - - - - DYT11 upper limb and neck myoclonus (HP:0001336), no dystonia (-HP:0001332), no seizures in childhood (-HP:0001250), generalized tonic–clonic seizures (HP:0002069) SGCE SGCE 1 1 Jamie Zeegers
00072234 24297365-FamPatIII10 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - F no Norway Norwegian - - - - DYT11 upper limb, trunk and neck myoclonus (HP:0001336), cervical dystonia (HP:0000473), vocal dystonia (HP:?), no epilepsy (-HP:0001250), myoclonic jerks (HP:0001336) SGCE SGCE 1 1 Jamie Zeegers
00072236 24297365-FamPatIII11 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - M - Norway Norwegian - - - - DYT11 upper limb myoclonus (HP:0001336), vocal dystonia (HP:?), no epilepsy (-HP:0001250) SGCE SGCE 1 1 Jamie Zeegers
00072242 22026499-FamPatIII2 PubMed: Tedroff 2011, Journal: Tedroff 2011 2-generation family, 3 affecteds, unaffected heterozygous carrier parents F no Sweden - >08y - - - DYT11 dependent of a walker (HP:?), diarrhoeas (HP:?), inability to control defecation (HP:?), myoclonic jerks (HP:0001336), SGCE SGCE 3 3 Jamie Zeegers
00072243 22026499-FamPatII3 PubMed: Tedroff 2011, Journal: Tedroff 2011 - M - Sweden - - - - - DYT11 writer’s cramp (HP:0002356), that alcohol rather induced dystonia (HP:?) SGCE SGCE 3 1 Jamie Zeegers
00072244 22026499-FamPatI2 PubMed: Tedroff 2011, Journal: Tedroff 2011 - F no Sweden - >50y - - - DYT11 hemidystonia (HP:?), myoclonal jerks (HP:0001336), interfered severely with balance (HP:0002141) and walking (HP:0002355), psychiatric disorder (HP:0000708), reduced myoclonus after alcohol intake (HP:?) SGCE SGCE 1 1 Jamie Zeegers
00100411 17394247-Fam PubMed: Chung 2007, Journal: Chung 2007 5-generation family, 3 affected/6 probably affected (4F, 5M), paternal inheritance F;M no Korea - - - - - DYT11 see paper; ..., MDS, bilateral carotid artery stenosis mimicking Moya–Moya disease SGCE SGCE 1 9 Johan den Dunnen
00100943 - - - - - Germany - - - - - DYT11 - SGCE SGCE 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00229579 - PubMed: Yakoreva 2019, Journal: Yakoreva 2019 - M - Estonia - - - - - DYT11 - - SGCE 1 1 Sander Pajusalu
00320074 172036 - - F - Germany - - - - - DYT11 (+) Dystonia,(+) Myoclonus SGCE SGCE 1 1 Andreas Laner
00448525 - - - F no Spain - - - - - DYT11 HP:0001332 Dystonia, HP:0002333 Motor deterioration, HP:0001336 Myoclonus, HP:0001337 Tremor. - SGCE 1 1 Maria Elena García Paya
00465957 - - - M - - (not applicable) - - - - - DYT11 - SGCE SGCE 1 1 Marketa Wayhelova
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