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Dystonia 12(DYT12)

MedGen UID:
358384
Concept ID:
C1868681
Disease or Syndrome
Synonyms: DYT12; Rapid-Onset Dystonia-Parkinsonism
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Rapid onset dystonia parkinsonism (702323008); DYT12 - dystonia 12 (702323008); Dystonia 12 (702323008)
 
Gene (location): ATP1A3 (19q13.2)
OMIM®: 128235
Orphanet: ORPHA71517

Disease characteristics

Excerpted from the GeneReview: ATP1A3-Related Neurologic Disorders
The spectrum of ATP1A3-related neurologic disorders includes rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. While early reports emphasized the distinctness of RDP and AHC, it is increasingly evident that these conditions represent a spectrum related to mutation of ATP1A3. Because only ten individuals from three families and one individual with a de novo pathogenic variant have been described with CAPOS syndrome to date, its phenotype is less defined; however, some features overlap with RDP and AHC as well. RDP is characterized by abrupt onset of dystonia with parkinsonism (primarily bradykinesia and postural instability); a clear rostrocaudal (face>arm>leg) topological gradient of involvement; bulbar involvement; and absence of response to an adequate trial of L-dopa therapy. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Anxiety, depression, and seizures have been reported. Age of onset is four to 55 years. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits develop in the majority of those affected, including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS syndrome (a mnemonic for cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss) is characterized by episodes of ataxic encephalopathy and/or weakness after a febrile illness. Onset is between ages six months and five years. Some acute symptoms resolve; disease progression and severity vary. [from GeneReviews]
Authors:
Allison Brashear  |  Kathleen J Sweadner  |  Jared F Cook, et. al.   view full author information

Additional descriptions

From OMIM
Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by Rosewich et al., 2014).  http://www.omim.org/entry/128235
From GHR
Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.Rapid-onset dystonia parkinsonism causes movement abnormalities that can make it difficult to walk, talk, and carry out other activities of daily life. In this disorder, dystonia affects the arms and legs, causing muscle cramping and spasms. Facial muscles are often affected, resulting in problems with speech and swallowing. The movement abnormalities associated with rapid-onset dystonia parkinsonism tend to begin near the top of the body and move downward, first affecting the facial muscles, then the arms, and finally the legs.The signs and symptoms of rapid-onset dystonia parkinsonism most commonly appear in adolescence or young adulthood. In some affected individuals, signs and symptoms can be triggered by an infection, physical stress (such as prolonged exercise), emotional stress, or alcohol consumption. The signs and symptoms tend to stabilize within about a month, but they typically do not improve much after that. In some people with this condition, the movement abnormalities abruptly worsen during a second episode several years later.Some people with rapid-onset dystonia parkinsonism have been diagnosed with anxiety, social phobias, depression, and seizures. It is unclear whether these disorders are related to the genetic changes that cause rapid-onset dystonia parkinsonism.  https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism

Clinical features

Torticollis
MedGen UID:
182772
Concept ID:
C0949445
Sign or Symptom
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Dystonia 12 in Orphanet.

Recent clinical studies

Etiology

Sweney MT, Newcomb TM, Swoboda KJ
Pediatr Neurol 2015 Jan;52(1):56-64. Epub 2014 Oct 13 doi: 10.1016/j.pediatrneurol.2014.09.015. PMID: 25447930Free PMC Article
Lee MJ, Lin PY, Chang YY, Chong MY, Lee Y
Clin Neuropharmacol 2014 Jul-Aug;37(4):111-5. doi: 10.1097/WNF.0000000000000040. PMID: 24992086
Fornarino S, Stagnaro M, Rinelli M, Tiziano D, Mancardi MM, Traverso M, Veneselli E, De Grandis E
Neurology 2014 Jun 3;82(22):2037-8. Epub 2014 May 2 doi: 10.1212/WNL.0000000000000473. PMID: 24793181
Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K
Neurology 2014 Mar 18;82(11):945-55. Epub 2014 Feb 12 doi: 10.1212/WNL.0000000000000212. PMID: 24523486
Brashear A, Cook JF, Hill DF, Amponsah A, Snively BM, Light L, Boggs N, Suerken CK, Stacy M, Ozelius L, Sweadner KJ, McCall WV
Neurology 2012 Sep 11;79(11):1168-73. Epub 2012 Aug 29 doi: 10.1212/WNL.0b013e3182698d6c. PMID: 22933743Free PMC Article

Diagnosis

Sweney MT, Newcomb TM, Swoboda KJ
Pediatr Neurol 2015 Jan;52(1):56-64. Epub 2014 Oct 13 doi: 10.1016/j.pediatrneurol.2014.09.015. PMID: 25447930Free PMC Article
Brashear A, Cook JF, Hill DF, Amponsah A, Snively BM, Light L, Boggs N, Suerken CK, Stacy M, Ozelius L, Sweadner KJ, McCall WV
Neurology 2012 Sep 11;79(11):1168-73. Epub 2012 Aug 29 doi: 10.1212/WNL.0b013e3182698d6c. PMID: 22933743Free PMC Article
Brashear A, Mink JW, Hill DF, Boggs N, McCall WV, Stacy MA, Snively B, Light LS, Sweadner KJ, Ozelius LJ, Morrison L
Dev Med Child Neurol 2012 Nov;54(11):1065-7. Epub 2012 Aug 28 doi: 10.1111/j.1469-8749.2012.04421.x. PMID: 22924536Free PMC Article
Bradley D, Whelan R, Kimmich O, O'Riordan S, Mulrooney N, Brady P, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M
J Neurol 2012 Jan;259(1):77-82. Epub 2011 Jun 8 doi: 10.1007/s00415-011-6125-7. PMID: 21656045
Geyer HL, Bressman SB
Handb Clin Neurol 2011;100:559-62. doi: 10.1016/B978-0-444-52014-2.00040-9. PMID: 21496607

Therapy

Lee MJ, Lin PY, Chang YY, Chong MY, Lee Y
Clin Neuropharmacol 2014 Jul-Aug;37(4):111-5. doi: 10.1097/WNF.0000000000000040. PMID: 24992086
Hanagasi HA, Akat S, Gurvit H, Yazici J, Emre M
Clin Neurol Neurosurg 2011 Jan;113(1):11-3. Epub 2010 Aug 25 doi: 10.1016/j.clineuro.2010.07.024. PMID: 20800342
Yianni J, Bain P, Giladi N, Auca M, Gregory R, Joint C, Nandi D, Stein J, Scott R, Aziz T
Mov Disord 2003 Apr;18(4):436-42. doi: 10.1002/mds.10380. PMID: 12671953
Scott BL
South Med J 2000 Aug;93(8):746-51. PMID: 10963502
Lees AJ, Turjanski N, Rivest J, Whurr R, Lorch M, Brookes G
J Neurol 1992 Jan;239(1):1-4. PMID: 1541963

Prognosis

Fornarino S, Stagnaro M, Rinelli M, Tiziano D, Mancardi MM, Traverso M, Veneselli E, De Grandis E
Neurology 2014 Jun 3;82(22):2037-8. Epub 2014 May 2 doi: 10.1212/WNL.0000000000000473. PMID: 24793181
Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K
Neurology 2014 Mar 18;82(11):945-55. Epub 2014 Feb 12 doi: 10.1212/WNL.0000000000000212. PMID: 24523486
Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N
Eur J Hum Genet 2012 Feb;20(2):171-5. Epub 2011 Aug 17 doi: 10.1038/ejhg.2011.159. PMID: 21847143Free PMC Article
Yianni J, Bain P, Giladi N, Auca M, Gregory R, Joint C, Nandi D, Stein J, Scott R, Aziz T
Mov Disord 2003 Apr;18(4):436-42. doi: 10.1002/mds.10380. PMID: 12671953

Clinical prediction guides

Rosewich H, Baethmann M, Ohlenbusch A, Gärtner J, Brockmann K
J Neurol Sci 2014 Jun 15;341(1-2):133-5. Epub 2014 Mar 25 doi: 10.1016/j.jns.2014.03.034. PMID: 24713507
Toustrup-Jensen MS, Einholm AP, Schack VR, Nielsen HN, Holm R, Sobrido MJ, Andersen JP, Clausen T, Vilsen B
J Biol Chem 2014 Feb 7;289(6):3186-97. Epub 2013 Dec 19 doi: 10.1074/jbc.M113.543272. PMID: 24356962Free PMC Article
Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N
Eur J Hum Genet 2012 Feb;20(2):171-5. Epub 2011 Aug 17 doi: 10.1038/ejhg.2011.159. PMID: 21847143Free PMC Article
Bøttger P, Tracz Z, Heuck A, Nissen P, Romero-Ramos M, Lykke-Hartmann K
J Comp Neurol 2011 Feb 1;519(2):376-404. doi: 10.1002/cne.22524. PMID: 21165980
Ertan S, Uluduz D, Ozekmekçi S, Kiziltan G, Ertan T, Yalçinkaya C, Ozkara C
Mov Disord 2009 Apr 15;24(5):759-62. doi: 10.1002/mds.22114. PMID: 19205065

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