Juvenile-onset dystonia
| Juvenile-onset dystonia | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | dystonia starting in late childhood-early teenage years |
| Complications | Premature death is seen in some people with the disorder |
| Usual onset | Late childhood-early adolescence |
| Duration | Life-long |
| Causes | Genetic mutation |
| Risk factors | Having a parent with the disorder |
| Diagnostic method | Physical evaluation |
| Differential diagnosis | dystonia |
| 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.
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]
References
- ^ "Dystonia, juvenile-onset". www.uniprot.org. Retrieved 2022-05-15.
- ^ www.malacards.org https://www.malacards.org/card/dystonia_juvenile_onset. Retrieved 2022-05-15.
{{cite web}}: Missing or empty|title=(help) - ^ "Juvenile-onset dystonia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
- ^ "OMIM Entry - # 607371 - DYSTONIA, JUVENILE-ONSET; DJO". www.omim.org. Retrieved 2022-05-15.
- ^ 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. doi:10.1002/ana.10319. ISSN 0364-5134. PMC 2821042. PMID 12325076.
- ^ 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. 405: 333. doi:10.1016/j.jns.2019.10.1455. ISSN 0022-510X. S2CID 209476965.
- ^ "Dystonia – Classifications, Symptoms and Treatment". www.aans.org. Retrieved 2022-05-15.
- ^ 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. ISSN 0009-918X. PMID 1769149.
- ^ 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. ISSN 1565-1088. PMID 10979329.
- ^ "Juvenile-onset dystonia". NORD (National Organization for Rare Disorders). Retrieved 2022-05-15.
- ^ 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. 29 (12): 1833–1837. doi:10.1038/s41431-021-00939-1. ISSN 1476-5438. PMC 8633184. PMID 34305140.