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Tics

MedGen UID:
853666
Concept ID:
C2169806
Sign or Symptom
Synonym: Tic disorder
 
HPO: HP:0100033
Monarch Initiative: MONDO:0002420

Definition

Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement. [from HPO]

Conditions with this feature

Chorea-acanthocytosis
MedGen UID:
98277
Concept ID:
C0393576
Disease or Syndrome
Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.
Primrose syndrome
MedGen UID:
162911
Concept ID:
C0796121
Disease or Syndrome
Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple Wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
MedGen UID:
767362
Concept ID:
C3554448
Disease or Syndrome
GAND syndrome is a neurodevelopmental syndrome characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development. Most patients have poor speech acquisition, especially expressive language development, and may manifest signs of speech apraxia. Affected individuals have hypotonia and feeding difficulties in infancy, as well as common dysmorphic features, such as macrocephaly, frontal bossing, hypertelorism, deep-set eyes, posteriorly rotated ears, and elongated wide nose with prominent nasal tip. More variable features may include seizures, cardiac abnormalities, and nonspecific findings on brain imaging (summary by Shieh et al., 2020).
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
MedGen UID:
897984
Concept ID:
C4225351
Disease or Syndrome
White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.
Intellectual disability, autosomal dominant 51
MedGen UID:
1625009
Concept ID:
C4540474
Mental or Behavioral Dysfunction
Coffin-Siris syndrome 6
MedGen UID:
1615540
Concept ID:
C4540499
Disease or Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
MedGen UID:
1647077
Concept ID:
C4693405
Disease or Syndrome
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) is characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).
Neurodevelopmental disorder with dysmorphic facies and variable seizures
MedGen UID:
1784197
Concept ID:
C5543268
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) is an autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures. Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated (summary by Shao et al., 2021).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).

Professional guidelines

PubMed

Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS
Lancet Neurol 2023 Feb;22(2):147-158. Epub 2022 Oct 28 doi: 10.1016/S1474-4422(22)00303-9. PMID: 36354027Free PMC Article
Roessner V, Eichele H, Stern JS, Skov L, Rizzo R, Debes NM, Nagy P, Cavanna AE, Termine C, Ganos C, Münchau A, Szejko N, Cath D, Müller-Vahl KR, Verdellen C, Hartmann A, Rothenberger A, Hoekstra PJ, Plessen KJ
Eur Child Adolesc Psychiatry 2022 Mar;31(3):425-441. Epub 2021 Nov 10 doi: 10.1007/s00787-021-01899-z. PMID: 34757514Free PMC Article
Billnitzer A, Jankovic J
Neurotherapeutics 2020 Oct;17(4):1681-1693. doi: 10.1007/s13311-020-00914-6. PMID: 32856174Free PMC Article

Recent clinical studies

Etiology

Rizzo R, Prato A, Scerbo M, Saia F, Barone R, Curatolo P
Nutrients 2022 Feb 18;14(4) doi: 10.3390/nu14040852. PMID: 35215501Free PMC Article
Müller-Vahl KR, Szejko N, Verdellen C, Roessner V, Hoekstra PJ, Hartmann A, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):377-382. Epub 2021 Jul 10 doi: 10.1007/s00787-021-01832-4. PMID: 34244849Free PMC Article
Billnitzer A, Jankovic J
Neurotherapeutics 2020 Oct;17(4):1681-1693. doi: 10.1007/s13311-020-00914-6. PMID: 32856174Free PMC Article
Pringsheim T, Holler-Managan Y, Okun MS, Jankovic J, Piacentini J, Cavanna AE, Martino D, Müller-Vahl K, Woods DW, Robinson M, Jarvie E, Roessner V, Oskoui M
Neurology 2019 May 7;92(19):907-915. doi: 10.1212/WNL.0000000000007467. PMID: 31061209Free PMC Article
Osland ST, Steeves TD, Pringsheim T
Cochrane Database Syst Rev 2018 Jun 26;6(6):CD007990. doi: 10.1002/14651858.CD007990.pub3. PMID: 29944175Free PMC Article

Diagnosis

Müller-Vahl KR, Szejko N, Verdellen C, Roessner V, Hoekstra PJ, Hartmann A, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):377-382. Epub 2021 Jul 10 doi: 10.1007/s00787-021-01832-4. PMID: 34244849Free PMC Article
Billnitzer A, Jankovic J
Neurotherapeutics 2020 Oct;17(4):1681-1693. doi: 10.1007/s13311-020-00914-6. PMID: 32856174Free PMC Article
Singer HS
Continuum (Minneap Minn) 2019 Aug;25(4):936-958. doi: 10.1212/CON.0000000000000752. PMID: 31356288
Stern JS
Pract Neurol 2018 Aug;18(4):262-270. Epub 2018 Apr 10 doi: 10.1136/practneurol-2017-001755. PMID: 29636375
Kious BM, Jimenez-Shahed J, Shprecher DR
Prog Neuropsychopharmacol Biol Psychiatry 2016 Oct 3;70:227-36. Epub 2016 Feb 10 doi: 10.1016/j.pnpbp.2016.02.003. PMID: 26875502

Therapy

Billnitzer A, Jankovic J
Neurotherapeutics 2020 Oct;17(4):1681-1693. doi: 10.1007/s13311-020-00914-6. PMID: 32856174Free PMC Article
Osland ST, Steeves TD, Pringsheim T
Cochrane Database Syst Rev 2018 Jun 26;6(6):CD007990. doi: 10.1002/14651858.CD007990.pub3. PMID: 29944175Free PMC Article
Eggersdorfer M, Wyss A
Arch Biochem Biophys 2018 Aug 15;652:18-26. Epub 2018 Jun 6 doi: 10.1016/j.abb.2018.06.001. PMID: 29885291
Stern JS
Pract Neurol 2018 Aug;18(4):262-270. Epub 2018 Apr 10 doi: 10.1136/practneurol-2017-001755. PMID: 29636375
Hirschtritt ME, Bloch MH, Mathews CA
JAMA 2017 Apr 4;317(13):1358-1367. doi: 10.1001/jama.2017.2200. PMID: 28384832

Prognosis

Liu R, Zhu G, Sun Y, Li M, Hu Z, Cao P, Li X, Song Z, Chen J
Front Immunol 2023;14:1304529. Epub 2023 Dec 22 doi: 10.3389/fimmu.2023.1304529. PMID: 38204755Free PMC Article
Nilles C, Hartmann A, Roze E, Martino D, Pringsheim T
Handb Clin Neurol 2023;196:457-474. doi: 10.1016/B978-0-323-98817-9.00002-8. PMID: 37620085
Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS
Lancet Neurol 2023 Feb;22(2):147-158. Epub 2022 Oct 28 doi: 10.1016/S1474-4422(22)00303-9. PMID: 36354027Free PMC Article
Zhang HL, Chen P, Yan HX, Fu GB, Luo FF, Zhang J, Zhao SM, Zhai B, Yu JH, Chen L, Cui HS, Chen J, Huang S, Zeng J, Xu W, Wang HY, Liu J
Adv Sci (Weinh) 2022 Jul;9(20):e2103887. Epub 2022 Feb 20 doi: 10.1002/advs.202103887. PMID: 35187863Free PMC Article
Robertson MM, Eapen V, Singer HS, Martino D, Scharf JM, Paschou P, Roessner V, Woods DW, Hariz M, Mathews CA, Črnčec R, Leckman JF
Nat Rev Dis Primers 2017 Feb 2;3:16097. doi: 10.1038/nrdp.2016.97. PMID: 28150698

Clinical prediction guides

Cavanna AE, Purpura G, Riva A, Nacinovich R, Seri S
J Neurol Sci 2023 Aug 15;451:120725. Epub 2023 Jun 29 doi: 10.1016/j.jns.2023.120725. PMID: 37421881
Müller-Vahl KR, Pisarenko A, Szejko N, Haas M, Fremer C, Jakubovski E, Musil R, Münchau A, Neuner I, Huys D, van Elst LT, Schröder C, Ringlstetter R, Koch A, Jenz EB, Großhennig A
Psychiatry Res 2023 May;323:115135. Epub 2023 Feb 28 doi: 10.1016/j.psychres.2023.115135. PMID: 36878177
Gilbert DL, Dubow JS, Cunniff TM, Wanaski SP, Atkinson SD, Mahableshwarkar AR
Pediatrics 2023 Feb 1;151(2) doi: 10.1542/peds.2022-059574. PMID: 36628546
Baizabal-Carvallo JF, Jankovic J
Acta Neurol Belg 2022 Aug;122(4):925-930. Epub 2022 Apr 10 doi: 10.1007/s13760-022-01944-x. PMID: 35397742
Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article

Recent systematic reviews

Farhat LC, Behling E, Landeros-Weisenberger A, Levine JLS, Macul Ferreira de Barros P, Wang Z, Bloch MH
Lancet Child Adolesc Health 2023 Feb;7(2):112-126. Epub 2022 Dec 14 doi: 10.1016/S2352-4642(22)00316-9. PMID: 36528030
McCashin D, Murphy CM
Clin Child Psychol Psychiatry 2023 Jan;28(1):279-306. Epub 2022 Jun 10 doi: 10.1177/13591045221106608. PMID: 35689365Free PMC Article
Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article
Pringsheim T, Holler-Managan Y, Okun MS, Jankovic J, Piacentini J, Cavanna AE, Martino D, Müller-Vahl K, Woods DW, Robinson M, Jarvie E, Roessner V, Oskoui M
Neurology 2019 May 7;92(19):907-915. doi: 10.1212/WNL.0000000000007467. PMID: 31061209Free PMC Article
Osland ST, Steeves TD, Pringsheim T
Cochrane Database Syst Rev 2018 Jun 26;6(6):CD007990. doi: 10.1002/14651858.CD007990.pub3. PMID: 29944175Free PMC Article

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