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Focal dystonia

MedGen UID:
149279
Concept ID:
C0743332
Disease or Syndrome
Synonyms: Dystonia, Focal; Dystonias, Focal; Focal Dystonia; Focal Dystonias
SNOMED CT: Focal dystonia (445006008)
 
HPO: HP:0004373
Monarch Initiative: MONDO:0000477

Definition

A type of dystonia that is localized to a specific part of the body. [from HPO]

Conditions with this feature

Partington syndrome
MedGen UID:
163237
Concept ID:
C0796250
Disease or Syndrome
Partington syndrome (PRTS) is an X-linked developmental disorder characterized by impaired intellectual development and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (see 308350) to nonsyndromic intellectual disability (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).
Spinocerebellar ataxia type 14
MedGen UID:
343106
Concept ID:
C1854369
Disease or Syndrome
Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. The average age of onset is in the 30s, with a range from childhood to the seventh decade. Life span is not shortened.
Autosomal recessive juvenile Parkinson disease 2
MedGen UID:
401500
Concept ID:
C1868675
Disease or Syndrome
Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity. The median age at onset is 31 years (range: 3-81 years). The disease is slowly progressive: disease duration of more than 50 years has been reported. Clinical findings vary; hyperreflexia is common. Lower-limb dystonia may be a presenting sign and cognitive decline appears to be no more frequent than in the general population. Dyskinesia as a result of treatment with levodopa frequently occurs.
Torsion dystonia 17
MedGen UID:
391003
Concept ID:
C2676281
Disease or Syndrome
Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
Dystonia 22, adult-onset
MedGen UID:
1841294
Concept ID:
C5830658
Disease or Syndrome
Adult-onset dystonia-22 (DYT22AO) is an autosomal recessive disorder characterized by focal dystonia or tremor and mild cognitive impairment (Mencacci et al., 2021).

Professional guidelines

PubMed

Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Albanese A, Di Giovanni M, Lalli S
Eur J Neurol 2019 Jan;26(1):5-17. Epub 2018 Aug 18 doi: 10.1111/ene.13762. PMID: 30035844
Thenganatt MA, Jankovic J
Neurotherapeutics 2014 Jan;11(1):139-52. doi: 10.1007/s13311-013-0231-4. PMID: 24142590Free PMC Article

Recent clinical studies

Etiology

Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2021;11:54. Epub 2021 Dec 21 doi: 10.5334/tohm.670. PMID: 35036047Free PMC Article
Choudhury S, Baker MR, Chatterjee S, Kumar H
Toxins (Basel) 2021 Jan 14;13(1) doi: 10.3390/toxins13010058. PMID: 33466571Free PMC Article
Evatt ML, Freeman A, Factor S
Handb Clin Neurol 2011;100:481-511. doi: 10.1016/B978-0-444-52014-2.00037-9. PMID: 21496604
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Hoppmann RA
Occup Med 2001 Oct-Dec;16(4):619-31, iv-v. PMID: 11567922

Diagnosis

Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2021;11:54. Epub 2021 Dec 21 doi: 10.5334/tohm.670. PMID: 35036047Free PMC Article
Tyślerowicz M, Kiedrzyńska W, Adamkiewicz B, Jost WH, Sławek J
Neurol Neurochir Pol 2020;54(3):232-242. Epub 2020 Apr 14 doi: 10.5603/PJNNS.a2020.0021. PMID: 32285434
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Albanese A, Di Giovanni M, Lalli S
Eur J Neurol 2019 Jan;26(1):5-17. Epub 2018 Aug 18 doi: 10.1111/ene.13762. PMID: 30035844
Batla A
Neurol India 2018 Mar-Apr;66(Supplement):S48-S58. doi: 10.4103/0028-3886.226439. PMID: 29503327

Therapy

Choudhury S, Baker MR, Chatterjee S, Kumar H
Toxins (Basel) 2021 Jan 14;13(1) doi: 10.3390/toxins13010058. PMID: 33466571Free PMC Article
Tyślerowicz M, Kiedrzyńska W, Adamkiewicz B, Jost WH, Sławek J
Neurol Neurochir Pol 2020;54(3):232-242. Epub 2020 Apr 14 doi: 10.5603/PJNNS.a2020.0021. PMID: 32285434
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Kaye R, Blitzer A
Toxins (Basel) 2017 Nov 2;9(11) doi: 10.3390/toxins9110356. PMID: 29099066Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2014 Feb 28;2014 PMID: 25347760Free PMC Article

Prognosis

Aryal R, Shrestha S, Homagain S, Chhetri S, Shrestha K, Kharel S, Karn R, Rajbhandari R, Gajurel BP, Ojha R
Brain Behav 2022 Feb;12(2):e2496. Epub 2022 Jan 13 doi: 10.1002/brb3.2496. PMID: 35025122Free PMC Article
Norris SA, Morris AE, Campbell MC, Karimi M, Adeyemo B, Paniello RC, Snyder AZ, Petersen SE, Mink JW, Perlmutter JS
Neurology 2020 Oct 20;95(16):e2246-e2258. Epub 2020 Sep 10 doi: 10.1212/WNL.0000000000010791. PMID: 32913023Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Hoppmann RA, Reid RR
Curr Opin Rheumatol 1995 Mar;7(2):147-50. doi: 10.1097/00002281-199503000-00014. PMID: 7766496
Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, Walsh LE, Kasarskis EJ, Butler IJ, Breakefield XO
Neurology 1993 Dec;43(12):2596-602. doi: 10.1212/wnl.43.12.2596. PMID: 8255463

Clinical prediction guides

Jankovic J, Tsui J, Brin MF
Medicine (Baltimore) 2023 Jul 1;102(S1):e32403. doi: 10.1097/MD.0000000000032403. PMID: 37499081Free PMC Article
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N
Eur J Hum Genet 2023 Sep;31(9):1032-1039. Epub 2023 Jun 26 doi: 10.1038/s41431-023-01406-9. PMID: 37365401Free PMC Article
Aryal R, Shrestha S, Homagain S, Chhetri S, Shrestha K, Kharel S, Karn R, Rajbhandari R, Gajurel BP, Ojha R
Brain Behav 2022 Feb;12(2):e2496. Epub 2022 Jan 13 doi: 10.1002/brb3.2496. PMID: 35025122Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2011 Jun 13;2011 PMID: 21663705Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article

Recent systematic reviews

Aryal R, Shrestha S, Homagain S, Chhetri S, Shrestha K, Kharel S, Karn R, Rajbhandari R, Gajurel BP, Ojha R
Brain Behav 2022 Feb;12(2):e2496. Epub 2022 Jan 13 doi: 10.1002/brb3.2496. PMID: 35025122Free PMC Article
Siokas V, Dardiotis E, Tsironi EE, Tsivgoulis G, Rikos D, Sokratous M, Koutsias S, Paterakis K, Deretzi G, Hadjigeorgiou GM
PLoS One 2017;12(1):e0169934. Epub 2017 Jan 12 doi: 10.1371/journal.pone.0169934. PMID: 28081261Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2014 Feb 28;2014 PMID: 25347760Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2011 Jun 13;2011 PMID: 21663705Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article

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