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Arm dystonia

MedGen UID:
1671069
Concept ID:
C4732776
Finding
HPO: HP:0031960

Definition

A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArm dystonia

Conditions with this feature

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
MedGen UID:
318633
Concept ID:
C1832466
Disease or Syndrome
ATP1A3-related neurologic disorders represent a clinical continuum in which at least three distinct phenotypes have been delineated: rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, some affected individuals have intermediate phenotypes or only a few features that do not fit well into one of these major phenotypes. RDP has been characterized by: abrupt onset of dystonia over days to weeks with parkinsonism (primarily bradykinesia and postural instability); common bulbar involvement; and absence or minimal response to an adequate trial of L-dopa therapy, with few exceptions. 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. Rarely, affected individuals have reported a more gradual onset of symptoms over weeks to months. Anxiety, depression, and seizures have been reported. Age of onset ranges from four to 55 years, although a childhood variation of RDP with onset between ages nine and 14 months has been reported. 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 including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction develop in the majority of those affected; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is characterized by episodes of ataxic encephalopathy and/or weakness during and after a febrile illness. Onset is between ages six months and four years. Some acute symptoms resolve; progression of sensory losses and severity vary.
Amyotrophic lateral sclerosis type 2, juvenile
MedGen UID:
349246
Concept ID:
C1859807
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.
Dystonia 24
MedGen UID:
767288
Concept ID:
C3554374
Disease or Syndrome
Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charlesworth et al., 2012).
Dystonia 30
MedGen UID:
1785079
Concept ID:
C5543312
Disease or Syndrome
Dystonia-30 (DYT30) is an autosomal dominant neurologic disorder characterized by the onset of symptoms in the first decades of life. Patients present with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation. A subset of patients may also have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations (summary by Steel et al., 2020). In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT30 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS16.
Dystonia 31
MedGen UID:
1794211
Concept ID:
C5562001
Disease or Syndrome
Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family (summary by Zech et al., 2022).

Professional guidelines

PubMed

Berardelli I, Pasquini M, Conte A, Bologna M, Berardelli A, Fabbrini G
Expert Rev Neurother 2019 Jan;19(1):55-65. Epub 2018 Dec 10 doi: 10.1080/14737175.2019.1555475. PMID: 30501439
Collins SJ, Ahlskog JE, Parisi JE, Maraganore DM
J Neurol Neurosurg Psychiatry 1995 Feb;58(2):167-73. doi: 10.1136/jnnp.58.2.167. PMID: 7876846Free PMC Article

Recent clinical studies

Etiology

Cunha de Azevedo AR, Contreras López WO, Navarro PA, Gouveia FV, Germann J, Elias GJB, Ruiz Martinez RC, Lopes Alho EJ, Fonoff ET
Neurosurgery 2022 Jul 1;91(1):139-145. Epub 2022 May 16 doi: 10.1227/neu.0000000000001963. PMID: 35550448
Dressler D, Kopp B, Adib Saberi F
J Neural Transm (Vienna) 2021 Mar;128(3):315-319. Epub 2021 Jan 30 doi: 10.1007/s00702-021-02307-1. PMID: 33515332Free PMC Article
Kukke SN, de Campos AC, Damiano D, Alter KE, Patronas N, Hallett M
Clin Neurophysiol 2015 Aug;126(8):1589-98. Epub 2014 Nov 15 doi: 10.1016/j.clinph.2014.11.002. PMID: 25499610Free PMC Article
Agostino R, Berardelli A, Formica A, Accornero N, Manfredi M
Brain 1992 Oct;115 ( Pt 5):1481-95. doi: 10.1093/brain/115.5.1481. PMID: 1422799
Jankovic J, Leder S, Warner D, Schwartz K
Neurology 1991 Jul;41(7):1088-91. doi: 10.1212/wnl.41.7.1088. PMID: 2067638

Diagnosis

Grigoriou S, Espa E, Odin P, Timpka J, von Grothusen G, Jakobsson A, Cenci MA
Neuropharmacology 2023 Oct 1;237:109630. Epub 2023 Jun 12 doi: 10.1016/j.neuropharm.2023.109630. PMID: 37315840
Belli E, Del Prete E, Unti E, Mazzucchi S, Palermo G, Ceravolo R
Neurol Sci 2023 Aug;44(8):2943-2945. Epub 2023 May 3 doi: 10.1007/s10072-023-06803-y. PMID: 37131084
Fabbrini G, Conte A, Ferrazzano G, Esposito M, Albanese A, Pellicciari R, Di Biasio F, Bono F, Eleopra R, Ercoli T, Altavista MC, Berardelli A, Defazio G; Italian Dystonia Registry participants
Neurol Sci 2021 Jul;42(7):2947-2950. Epub 2021 Jan 3 doi: 10.1007/s10072-020-05025-w. PMID: 33389253
Conte A, Berardelli I, Ferrazzano G, Pasquini M, Berardelli A, Fabbrini G
Parkinsonism Relat Disord 2016 Jan;22 Suppl 1:S111-4. Epub 2015 Sep 3 doi: 10.1016/j.parkreldis.2015.09.001. PMID: 26360238
Rana AQ, Ansari H, Siddiqui I
J Clin Neurosci 2012 Aug;19(8):1134-6. Epub 2012 Jun 15 doi: 10.1016/j.jocn.2011.10.012. PMID: 22705141

Therapy

Grigoriou S, Espa E, Odin P, Timpka J, von Grothusen G, Jakobsson A, Cenci MA
Neuropharmacology 2023 Oct 1;237:109630. Epub 2023 Jun 12 doi: 10.1016/j.neuropharm.2023.109630. PMID: 37315840
Cunha de Azevedo AR, Contreras López WO, Navarro PA, Gouveia FV, Germann J, Elias GJB, Ruiz Martinez RC, Lopes Alho EJ, Fonoff ET
Neurosurgery 2022 Jul 1;91(1):139-145. Epub 2022 May 16 doi: 10.1227/neu.0000000000001963. PMID: 35550448
Sierakowski J, Koul P
Pediatr Emerg Care 2020 Nov;36(11):e656-e658. doi: 10.1097/PEC.0000000000002253. PMID: 32947563
Trompetto C, Avanzino L, Bove M, Marinelli L, Molfetta L, Trentini R, Abbruzzese G
Eur J Neurol 2009 Apr;16(4):517-21. doi: 10.1111/j.1468-1331.2008.02525.x. PMID: 19187259
Jabusch HC, Vauth H, Altenmüller E
Mov Disord 2004 Feb;19(2):171-80. doi: 10.1002/mds.10671. PMID: 14978672

Prognosis

Grigoriou S, Espa E, Odin P, Timpka J, von Grothusen G, Jakobsson A, Cenci MA
Neuropharmacology 2023 Oct 1;237:109630. Epub 2023 Jun 12 doi: 10.1016/j.neuropharm.2023.109630. PMID: 37315840
Mestre TA, Lang AE, Ferreira JJ, Almeida V, de Carvalho M, Miyasaki J, Chen R, Fox S
J Neurol Neurosurg Psychiatry 2012 Jul;83(7):725-9. Epub 2012 May 10 doi: 10.1136/jnnp-2012-302436. PMID: 22577231
Malfait N, Sanger TD
Exp Brain Res 2007 Jan;176(2):206-16. doi: 10.1007/s00221-006-0606-4. PMID: 16850323
Schuele S, Lederman RJ
Mov Disord 2004 Jan;19(1):43-8. doi: 10.1002/mds.10647. PMID: 14743359
Barclay CL, Lang AE
J Neurol Neurosurg Psychiatry 1997 Apr;62(4):352-6. doi: 10.1136/jnnp.62.4.352. PMID: 9120447Free PMC Article

Clinical prediction guides

Grigoriou S, Espa E, Odin P, Timpka J, von Grothusen G, Jakobsson A, Cenci MA
Neuropharmacology 2023 Oct 1;237:109630. Epub 2023 Jun 12 doi: 10.1016/j.neuropharm.2023.109630. PMID: 37315840
Ramella M, Converti RM, Giacobbi G, Castagna A, Saibene E, Borgnis F, Baglio F
Parkinsonism Relat Disord 2022 Jun;99:79-83. Epub 2022 May 20 doi: 10.1016/j.parkreldis.2022.05.015. PMID: 35623227
Cunha de Azevedo AR, Contreras López WO, Navarro PA, Gouveia FV, Germann J, Elias GJB, Ruiz Martinez RC, Lopes Alho EJ, Fonoff ET
Neurosurgery 2022 Jul 1;91(1):139-145. Epub 2022 May 16 doi: 10.1227/neu.0000000000001963. PMID: 35550448
Rana AQ, Ansari H, Siddiqui I
J Clin Neurosci 2012 Aug;19(8):1134-6. Epub 2012 Jun 15 doi: 10.1016/j.jocn.2011.10.012. PMID: 22705141
Kägi G, Schwingenschuh P, Bhatia KP
Mov Disord 2008 Sep 15;23(12):1784-7. doi: 10.1002/mds.22216. PMID: 18661568

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