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Dyskinesia

MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
Synonyms: Dyskinesias; Dyskinesis
SNOMED CT: Dyskinesia (9748009); Dyskinesia (229694001)
 
HPO: HP:0100660

Definition

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDyskinesia

Conditions with this feature

Congenital defect of folate absorption
MedGen UID:
83348
Concept ID:
C0342705
Disease or Syndrome
Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system (CNS). Findings include poor feeding and failure to thrive, anemia often accompanied by leukopenia and/or thrombocytopenia, diarrhea and/or oral mucositis, hypoimmunoglobulinemia, and other immunologic dysfunction resulting in infections with unusual organisms. Neurologic manifestations include developmental delays, cognitive and motor impairment, behavioral disorders and, frequently, seizures.
Parkinsonism, early onset with mental retardation
MedGen UID:
208674
Concept ID:
C0796195
Disease or Syndrome
Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease (summary by Wilson et al., 2014).
Dystonia 9
MedGen UID:
371427
Concept ID:
C1832855
Disease or Syndrome
Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).
Spastic paraplegia 26
MedGen UID:
373138
Concept ID:
C1836632
Disease or Syndrome
SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).
GLUT1 deficiency syndrome 2
MedGen UID:
330866
Concept ID:
C1842534
Disease or Syndrome
The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1-DS) is now known to be a continuum that includes the classic phenotype as well as dystonia 9, dystonia 18, atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures begin before age two years in approximately 90% and later in approximately 10%. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continuous with fluctuations in severity influenced by environmental factors such as fasting, fever, and intercurrent infection. Symptoms often improve substantially when a ketogenic diet is started.
Dyskinesia, familial, with facial myokymia
MedGen UID:
338280
Concept ID:
C1847627
Disease or Syndrome
ADCY5-related dyskinesia is characterized by infantile- to late-adolescent onset of paroxysmal choreiform, myoclonic, and/or dystonic movements that involve the limbs, neck, and/or face. Dyskinesias are often exacerbated by anxiety (although not by startle, caffeine, or alcohol). Facial ‘twitches” (previously thought to be myokymia) involving the periorbital and/or perioral muscles may also be present. Hypotonia and delayed motor milestones may be present in more severely affected infants. The movement disorder can be static or slowly progressive, with a tendency to stabilize in early middle age. Intellect and life span are normal.
Infantile Parkinsonism-dystonia
MedGen UID:
413468
Concept ID:
C2751067
Disease or Syndrome
Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by Kurian et al., 2011). For an overlapping phenotype, see tyrosine hydroxylase deficiency (605407), also known as autosomal recessive Segawa syndrome.
Rett syndrome, congenital variant
MedGen UID:
462055
Concept ID:
C3150705
Disease or Syndrome
The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (300005).
Parkinson disease 17
MedGen UID:
481763
Concept ID:
C3280133
Disease or Syndrome
Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen.
Combined oxidative phosphorylation deficiency 13
MedGen UID:
767043
Concept ID:
C3554129
Disease or Syndrome
Idiopathic basal ganglia calcification 5
MedGen UID:
815975
Concept ID:
C3809645
Disease or Syndrome
Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).
MENTAL RETARDATION, X-LINKED 102
MedGen UID:
897961
Concept ID:
C4085582
Disease or Syndrome

Recent clinical studies

Etiology

Loomba RS, Danduran M, Nielsen KG, Ring AM, Kovach J, Anderson RH
Pediatr Cardiol 2017 Feb;38(2):410-417. Epub 2016 Nov 23 doi: 10.1007/s00246-016-1531-3. PMID: 27878633
Alshubaili A, Abou-Al-Shaar H, Santhamoorthy P, Attia H, Bohlega S
BMC Neurol 2016 Nov 17;16(1):226. doi: 10.1186/s12883-016-0746-5. PMID: 27855646Free PMC Article
Nicoletti A, Mostile G, Nicoletti G, Arabia G, Iliceto G, Lamberti P, Marconi R, Morgante L, Barone P, Quattrone A, Zappia M
J Neurol 2016 May;263(5):888-94. Epub 2016 Mar 10 doi: 10.1007/s00415-016-8075-6. PMID: 26964541
Simon N, Viallet F, Boulamery A, Eusebio A, Gayraud D, Azulay JP
Eur J Clin Pharmacol 2016 Apr;72(4):423-30. Epub 2016 Mar 3 doi: 10.1007/s00228-016-2034-0. PMID: 26936272
Mahida JB, Sulkowski JP, Cooper JN, King AP, Deans KJ, King DR, Minneci PC
J Surg Res 2015 Oct;198(2):393-9. Epub 2015 Mar 25 doi: 10.1016/j.jss.2015.03.056. PMID: 25891671

Diagnosis

Nicoletti A, Mostile G, Nicoletti G, Arabia G, Iliceto G, Lamberti P, Marconi R, Morgante L, Barone P, Quattrone A, Zappia M
J Neurol 2016 May;263(5):888-94. Epub 2016 Mar 10 doi: 10.1007/s00415-016-8075-6. PMID: 26964541
Pérez-López C, Samà A, Rodríguez-Martín D, Moreno-Aróstegui JM, Cabestany J, Bayes A, Mestre B, Alcaine S, Quispe P, Laighin GÓ, Sweeney D, Quinlan LR, Counihan TJ, Browne P, Annicchiarico R, Costa A, Lewy H, Rodríguez-Molinero A
Artif Intell Med 2016 Feb;67:47-56. Epub 2016 Jan 14 doi: 10.1016/j.artmed.2016.01.001. PMID: 26831150
Patra S
Curr Drug Saf 2016;11(1):102-3. PMID: 26391425
Mestre TA, Beaulieu-Boire I, Aquino CC, Phielipp N, Poon YY, Lui JP, So J, Fox SH
Parkinsonism Relat Disord 2015 Nov;21(11):1349-54. Epub 2015 Sep 25 doi: 10.1016/j.parkreldis.2015.09.044. PMID: 26439944
Mahida JB, Sulkowski JP, Cooper JN, King AP, Deans KJ, King DR, Minneci PC
J Surg Res 2015 Oct;198(2):393-9. Epub 2015 Mar 25 doi: 10.1016/j.jss.2015.03.056. PMID: 25891671

Therapy

Alshubaili A, Abou-Al-Shaar H, Santhamoorthy P, Attia H, Bohlega S
BMC Neurol 2016 Nov 17;16(1):226. doi: 10.1186/s12883-016-0746-5. PMID: 27855646Free PMC Article
Nicoletti A, Mostile G, Nicoletti G, Arabia G, Iliceto G, Lamberti P, Marconi R, Morgante L, Barone P, Quattrone A, Zappia M
J Neurol 2016 May;263(5):888-94. Epub 2016 Mar 10 doi: 10.1007/s00415-016-8075-6. PMID: 26964541
Simon N, Viallet F, Boulamery A, Eusebio A, Gayraud D, Azulay JP
Eur J Clin Pharmacol 2016 Apr;72(4):423-30. Epub 2016 Mar 3 doi: 10.1007/s00228-016-2034-0. PMID: 26936272
Antonini A, Fung VS, Boyd JT, Slevin JT, Hall C, Chatamra K, Eaton S, Benesh JA
Mov Disord 2016 Apr;31(4):530-7. Epub 2016 Jan 28 doi: 10.1002/mds.26528. PMID: 26817533Free PMC Article
Mestre TA, Beaulieu-Boire I, Aquino CC, Phielipp N, Poon YY, Lui JP, So J, Fox SH
Parkinsonism Relat Disord 2015 Nov;21(11):1349-54. Epub 2015 Sep 25 doi: 10.1016/j.parkreldis.2015.09.044. PMID: 26439944

Prognosis

Alshubaili A, Abou-Al-Shaar H, Santhamoorthy P, Attia H, Bohlega S
BMC Neurol 2016 Nov 17;16(1):226. doi: 10.1186/s12883-016-0746-5. PMID: 27855646Free PMC Article
Nicoletti A, Mostile G, Nicoletti G, Arabia G, Iliceto G, Lamberti P, Marconi R, Morgante L, Barone P, Quattrone A, Zappia M
J Neurol 2016 May;263(5):888-94. Epub 2016 Mar 10 doi: 10.1007/s00415-016-8075-6. PMID: 26964541
Cattaneo C, Ferla RL, Bonizzoni E, Sardina M
J Parkinsons Dis 2015;5(3):475-81. doi: 10.3233/JPD-150569. PMID: 26406127Free PMC Article
O'Brien CF, Jimenez R, Hauser RA, Factor SA, Burke J, Mandri D, Castro-Gayol JC
Mov Disord 2015 Oct;30(12):1681-7. Epub 2015 Sep 8 doi: 10.1002/mds.26330. PMID: 26346941Free PMC Article
Mahida JB, Sulkowski JP, Cooper JN, King AP, Deans KJ, King DR, Minneci PC
J Surg Res 2015 Oct;198(2):393-9. Epub 2015 Mar 25 doi: 10.1016/j.jss.2015.03.056. PMID: 25891671

Clinical prediction guides

Nicoletti A, Mostile G, Nicoletti G, Arabia G, Iliceto G, Lamberti P, Marconi R, Morgante L, Barone P, Quattrone A, Zappia M
J Neurol 2016 May;263(5):888-94. Epub 2016 Mar 10 doi: 10.1007/s00415-016-8075-6. PMID: 26964541
Mestre TA, Beaulieu-Boire I, Aquino CC, Phielipp N, Poon YY, Lui JP, So J, Fox SH
Parkinsonism Relat Disord 2015 Nov;21(11):1349-54. Epub 2015 Sep 25 doi: 10.1016/j.parkreldis.2015.09.044. PMID: 26439944
O'Brien CF, Jimenez R, Hauser RA, Factor SA, Burke J, Mandri D, Castro-Gayol JC
Mov Disord 2015 Oct;30(12):1681-7. Epub 2015 Sep 8 doi: 10.1002/mds.26330. PMID: 26346941Free PMC Article
Mahida JB, Sulkowski JP, Cooper JN, King AP, Deans KJ, King DR, Minneci PC
J Surg Res 2015 Oct;198(2):393-9. Epub 2015 Mar 25 doi: 10.1016/j.jss.2015.03.056. PMID: 25891671
Müller T
Expert Opin Investig Drugs 2015 Jun;24(6):737-42. Epub 2015 Mar 25 doi: 10.1517/13543784.2015.1029573. PMID: 25809133

Recent systematic reviews

Lv Z, Rong B, Tong X, Li X, Chen X, Wang X, Li Z
Int J Neurosci 2016 Nov;126(11):1044-50. Epub 2015 Sep 23 doi: 10.3109/00207454.2015.1089504. PMID: 26398367
Adelufosi AO, Abayomi O, Ojo TM
Cochrane Database Syst Rev 2015 Apr 13;(4):CD010501. doi: 10.1002/14651858.CD010501.pub2. PMID: 25866243
Veenstra BR, Deal RA, Redondo RE, Daly SC, Najman J, Myers JA, Millikan KW, Luu MB
Am J Surg 2014 Mar;207(3):366-70; discussion 369-70. Epub 2013 Dec 20 doi: 10.1016/j.amjsurg.2013.09.012. PMID: 24581761
Chondrogiorgi M, Tatsioni A, Reichmann H, Konitsiotis S
Eur J Neurol 2014 Mar;21(3):433-40. Epub 2013 Dec 7 doi: 10.1111/ene.12318. PMID: 24313869
Essali A, Deirawan H, Soares-Weiser K, Adams CE
Cochrane Database Syst Rev 2011 Nov 9;(11):CD000206. doi: 10.1002/14651858.CD000206.pub3. PMID: 22071797

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