179:, when she described pair of male twins which presented developmental delays of mild severity from birth, then started presenting symptoms of progressive dystonia at the age of 12 years old. One of the twins died at 21 years old and the other died at 22 years old. The exact prevalence of juvenile-onset dystonia is unknown, but at least 250,000 people in the
163:, which in turn cause involuntary movements and rather abnormal postures. Symptoms of this disorder vary among the people who have it. In every patient, these symptoms start between the late-childhood or early adolescence of the people with the disorder (hence juvenile-onset). In most people with this disorder, the cause is unknown. It is a type of
311:
Gearing, Marla; Juncos, Jorge L.; Procaccio, Vincent; Gutekunst, Claire-Anne; Marino-Rodriguez, Elaine M.; Gyure, Kymberly A.; Ono, Shoichiro; Santoianni, Robert; Krawiecki, Nicolas S.; Wallace, Douglas C.; Wainer, Bruce H. (October 2002).
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Kuukasjärvi, Anna; Landoni, Juan C.; Kaukonen, Jyrki; Juhakoski, Mika; Auranen, Mari; Torkkeli, Tommi; Velagapudi, Vidya; Suomalainen, Anu (December 2021).
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gene sometimes are the underlying cause of familial cases of juvenile-onset dystonia. Another gene associated with the disorder is
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Mazarib, A.; Simon, E. S.; Korczyn, A. D.; Falik-Zaccai, Z.; Gazit, E.; Giladi, N. (July 2000).
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483:"Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism"
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264:"Juvenile-onset dystonia - About the Disease - Genetic and Rare Diseases Information Center"
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444:"[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI]"
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546:"IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder"
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371:"A study of non-motor manifestations in patients with amyotrophic lateral sclerosis"
314:"Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia"
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Terao, Y.; Hashimoto, K.; Chiba, A.; Inoue, K.; Mannen, T. (September 1991).
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This disorder is at least partly genetic
Autosomal dominant mutations in the
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dystonia itself (not necessarily the juvenile-onset form).
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288:"OMIM Entry - # 607371 - DYSTONIA, JUVENILE-ONSET; DJO"
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dystonia starting in late childhood-early teenage years
419:"Dystonia – Classifications, Symptoms and Treatment"
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Chowdhury, A.; Biswas, A.; Pandit, A. (2019-10-15).
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159:is a disorder in which the muscles involuntarily
525:NORD (National Organization for Rare Disorders)
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487:The Israel Medical Association Journal: IMAJ
239:"Search results for dystonia juvenile onset"
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58:is seen in some people with the disorder
448:Rinsho Shinkeigaku = Clinical Neurology
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175:This disorder was first discovered by
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375:Journal of the Neurological Sciences
550:European Journal of Human Genetics
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94:Having a parent with the disorder
66:Late childhood-early adolescence
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608:Autosomal dominant disorders
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562:10.1038/s41431-021-00939-1
388:10.1016/j.jns.2019.10.1455
215:"Dystonia, juvenile-onset"
521:"Juvenile-onset dystonia"
268:rarediseases.info.nih.gov
157:Juvenile-onset dystonia
22:Juvenile-onset dystonia
618:Rare genetic syndromes
110:Differential diagnosis
177:Marla Gearing et al.
318:Annals of Neurology
104:Physical evaluation
556:(12): 1833–1837.
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423:www.aans.org
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292:www.omim.org
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90:Risk factors
63:Usual onset
602:Categories
530:2022-05-15
428:2022-05-15
297:2022-05-15
273:2022-05-15
249:2024-08-14
224:2022-05-15
201:References
121:Prevention
54:Premature
570:1476-5438
499:1565-1088
460:0009-918X
405:209476965
397:0022-510X
338:0364-5134
243:MalaCards
171:Etymology
147:Frequency
138:Prognosis
129:Treatment
74:Life-long
28:Specialty
613:Dystonia
588:34305140
507:10979329
356:12325076
165:dystonia
161:contract
115:dystonia
71:Duration
40:Symptoms
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195:IMPDH2
79:Causes
401:S2CID
56:death
584:PMID
566:ISSN
503:PMID
495:ISSN
464:PMID
456:ISSN
393:ISSN
352:PMID
334:ISSN
191:ACTB
150:Rare
124:none
574:PMC
558:doi
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