Juvenile-onset dystonia explained

Juvenile-onset dystonia
Symptoms:	dystonia starting in late childhood-early teenage years
Complications:	Premature death is seen in some people with the disorder
Onset:	Late childhood-early adolescence
Duration:	Life-long
Risks:	Having a parent with the disorder
Diagnosis:	Physical evaluation
Prevention:	none
Treatment:	Physical therapy
Prognosis:	Ok
Frequency:	Rare

Juvenile-onset dystonia is a disorder in which the muscles involuntarily contract, which in turn cause involuntary movements and rather abnormal postures.^[1] 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^[2] (hence juvenile-onset).^[3] In most people with this disorder, the cause is unknown. It is a type of dystonia.__TOC__

Etymology

This disorder was first discovered by Marla Gearing et al., 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.^{[4] [5]} The exact prevalence of juvenile-onset dystonia is unknown, but at least 250,000 people in the United States are affected by dystonia itself (not necessarily the juvenile-onset form).^{[6] [7]}

This disorder is at least partly genetic^{[8] [9]} Autosomal dominant mutations in the ACTB gene sometimes are the underlying cause of familial cases of juvenile-onset dystonia.^[10] Another gene associated with the disorder is IMPDH2.^[11]

Notes and References

1. Web site: Dystonia, juvenile-onset . 2022-05-15 . www.uniprot.org.
2. Web site: Search results for dystonia juvenile onset . MalaCards . 2024-08-12 . 2024-08-14.
3. Web site: Juvenile-onset dystonia - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-15 . rarediseases.info.nih.gov . en.
4. Web site: OMIM Entry - # 607371 - DYSTONIA, JUVENILE-ONSET; DJO . 2022-05-15 . www.omim.org . en-us.
5. 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 . Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia . Annals of Neurology . 52 . 4 . 465–476 . 10.1002/ana.10319 . 0364-5134 . 2821042 . 12325076.
6. Chowdhury . A. . Biswas . A. . Pandit . A. . 2019-10-15 . A study of non-motor manifestations in patients with amyotrophic lateral sclerosis . Journal of the Neurological Sciences . English . 405 . 333 . 10.1016/j.jns.2019.10.1455 . 209476965 . 0022-510X. free .
7. Web site: Dystonia – Classifications, Symptoms and Treatment . 2022-05-15 . www.aans.org . en.
8. Terao . Y. . Hashimoto . K. . Chiba . A. . Inoue . K. . Mannen . T. . September 1991 . [Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI] ]. Rinsho Shinkeigaku = Clinical Neurology . 31 . 9 . 1010–1014 . 0009-918X . 1769149.
9. Mazarib . A. . Simon . E. S. . Korczyn . A. D. . Falik-Zaccai . Z. . Gazit . E. . Giladi . N. . July 2000 . Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism . The Israel Medical Association Journal: IMAJ . 2 . 7 . 529–531 . 1565-1088 . 10979329.
10. Web site: Juvenile-onset dystonia . 2022-05-15 . NORD (National Organization for Rare Disorders) . en-US.
11. Kuukasjärvi . Anna . Landoni . Juan C. . Kaukonen . Jyrki . Juhakoski . Mika . Auranen . Mari . Torkkeli . Tommi . Velagapudi . Vidya . Suomalainen . Anu . December 2021 . IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder . European Journal of Human Genetics . en . 29 . 12 . 1833–1837 . 10.1038/s41431-021-00939-1 . 34305140 . 8633184 . 1476-5438.