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Head tremor

MedGen UID:
68690
Concept ID:
C0239882
Finding; Sign or Symptom
HPO: HP:0002346

Definition

An unintentional, oscillating to-and-fro muscle movement affecting head movement. [from HPO]

Term Hierarchy

Conditions with this feature

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
MedGen UID:
340052
Concept ID:
C1853761
Disease or Syndrome
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).
Spinocerebellar ataxia type 12
MedGen UID:
347653
Concept ID:
C1858501
Disease or Syndrome
Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5'' end of the PPP2R2B gene on chromosome 5q31-5q32.
Hereditary spastic paraplegia 46
MedGen UID:
473687
Concept ID:
C2828721
Disease or Syndrome
Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Sterol carrier protein 2 deficiency
MedGen UID:
462340
Concept ID:
C3150990
Disease or Syndrome
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
Dystonia 23
MedGen UID:
761274
Concept ID:
C3538999
Disease or Syndrome
A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.
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).
Tremor, hereditary essential, 6
MedGen UID:
1711112
Concept ID:
C5394329
Disease or Syndrome
Hereditary essential tremor-6 (ETM6) is an autosomal dominant neurologic disorder characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs. Some patients may have involvement of the head, trunk, lower limbs, and/or voice. Additional neurologic features, such as cognitive impairment or pyramidal signs, are usually not observed. Brain imaging does not show cerebellar atrophy or leukodystrophy. Skin biopsy shows intranuclear eosinophilic inclusions in fibroblasts and sweat gland cells, which may be used for diagnosis. There is evidence of genetic anticipation, with progressive earlier age at onset in younger generations. In rare cases, the phenotype may convert to NIID over time (summary by Sun et al., 2020; Ng et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300).
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
MedGen UID:
1794148
Concept ID:
C5561938
Disease or Syndrome
Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed (summary by Assoum et al., 2018 and Weng et al., 2021).
Dystonia 34, myoclonic
MedGen UID:
1805016
Concept ID:
C5676907
Disease or Syndrome
Myoclonic dystonia-34 (DYT34) is an autosomal dominant neurologic disorder characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus (Balint et al., 2020).
Intellectual developmental disorder, autosomal recessive 77
MedGen UID:
1823966
Concept ID:
C5774193
Mental or Behavioral Dysfunction
Autosomal recessive intellectual developmental disorder-77 (MRT77) is a nonsyndromic neurodevelopmental disorder characterized by global developmental delay with variably impaired cognitive development apparent from infancy. Affected individuals usually have delayed walking, sometimes with an unsteady gait, and may have poor speech and communication. Brain imaging is normal, and there are no additional significant neurologic abnormalities (Khoshbakht et al., 2021). Mutation in the CEP104 gene also causes a form of Joubert syndrome (JBTS25; 616781).
Spinocerebellar ataxia 50
MedGen UID:
1824045
Concept ID:
C5774272
Disease or Syndrome
Spinocerebellar ataxia-50 (SCA50) is an autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Most patients develop symptoms as adults, although childhood onset has rarely been reported. Additional more variable features may include tremor, dysarthria, dysphagia, and cognitive impairment with executive dysfunction (Coutelier et al., 2022; Schoggl et al., 2022).

Professional guidelines

PubMed

Zhang M, Li W, Hu L, Chen L, Yang L, Zhang T, Shen H, Peng Y, Gao S, Chen Z, Wang T, Zhao Z
BMJ Open 2020 Jan 15;10(1):e032096. doi: 10.1136/bmjopen-2019-032096. PMID: 31948986Free PMC Article
Sharma S, Pandey S
Postgrad Med J 2020 Feb;96(1132):84-93. Epub 2019 Oct 1 doi: 10.1136/postgradmedj-2019-136647. PMID: 31575730
Rincon F, Louis ED
Expert Opin Drug Saf 2005 Sep;4(5):899-913. doi: 10.1517/14740338.4.5.899. PMID: 16111452

Recent clinical studies

Etiology

Marques A, Pereira B, Simonetta-Moreau M, Castelnovo G, De Verdal M, Fluchère F, Laurencin C, Degos B, Tir M, Kreisler A, Blanchet-Fourcade G, Guehl D, Colin O, Poujois A, Sangla S, Tatu L, Derost P, Gayraud D, Tranchant C, Amarantini D, Devos D, Rascol O, Corvol JC, Durif F, Rieu I; Btx-HT Study Group
N Engl J Med 2023 Nov 9;389(19):1753-1765. doi: 10.1056/NEJMoa2304192. PMID: 37937777
Albanese A, Bhatia KP, Cardoso F, Comella C, Defazio G, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Kaji R, Krauss JK, Lang A, Tan EK, Tijssen MAJ, Vidailhet M
Mov Disord 2023 Aug;38(8):1367-1378. Epub 2023 Mar 29 doi: 10.1002/mds.29387. PMID: 36989390Free PMC Article
Vu JP, Lee HY, Chen Q, Cisneros E, Barbano RL, Goetz CG, Jankovic J, Jinnah HA, Perlmutter JS, Berman BD, Appelbaum MI, Stebbins GT, Comella CL, Peterson DA
J Neurol 2021 May;268(5):1945-1950. Epub 2021 Jan 8 doi: 10.1007/s00415-020-10378-5. PMID: 33417005Free PMC Article
Paparella G, Angelini L, De Biase A, Cannavacciuolo A, Colella D, Di Bonaventura C, Giallonardo AT, Berardelli A, Bologna M
Cerebellum 2021 Jun;20(3):374-383. Epub 2020 Nov 16 doi: 10.1007/s12311-020-01216-5. PMID: 33200286Free PMC Article
Bologna M, Berardelli I, Paparella G, Ferrazzano G, Angelini L, Giustini P, Alunni-Fegatelli D, Berardelli A
Cerebellum 2019 Oct;18(5):866-872. doi: 10.1007/s12311-019-01070-0. PMID: 31422549

Diagnosis

Albanese A, Bhatia KP, Cardoso F, Comella C, Defazio G, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Kaji R, Krauss JK, Lang A, Tan EK, Tijssen MAJ, Vidailhet M
Mov Disord 2023 Aug;38(8):1367-1378. Epub 2023 Mar 29 doi: 10.1002/mds.29387. PMID: 36989390Free PMC Article
Paparella G, Angelini L, De Biase A, Cannavacciuolo A, Colella D, Di Bonaventura C, Giallonardo AT, Berardelli A, Bologna M
Cerebellum 2021 Jun;20(3):374-383. Epub 2020 Nov 16 doi: 10.1007/s12311-020-01216-5. PMID: 33200286Free PMC Article
Bologna M, Berardelli I, Paparella G, Ferrazzano G, Angelini L, Giustini P, Alunni-Fegatelli D, Berardelli A
Cerebellum 2019 Oct;18(5):866-872. doi: 10.1007/s12311-019-01070-0. PMID: 31422549
Louis ED
Neuroepidemiology 2019;52(1-2):111-118. Epub 2019 Jan 9 doi: 10.1159/000492831. PMID: 30625472
Chen W, Hopfner F, Szymczak S, Granert O, Müller SH, Kuhlenbäumer G, Deuschl G
Parkinsonism Relat Disord 2017 Jul;40:58-63. Epub 2017 Apr 20 doi: 10.1016/j.parkreldis.2017.04.012. PMID: 28442304

Therapy

Marques A, Pereira B, Simonetta-Moreau M, Castelnovo G, De Verdal M, Fluchère F, Laurencin C, Degos B, Tir M, Kreisler A, Blanchet-Fourcade G, Guehl D, Colin O, Poujois A, Sangla S, Tatu L, Derost P, Gayraud D, Tranchant C, Amarantini D, Devos D, Rascol O, Corvol JC, Durif F, Rieu I; Btx-HT Study Group
N Engl J Med 2023 Nov 9;389(19):1753-1765. doi: 10.1056/NEJMoa2304192. PMID: 37937777
Shen J, Marsili L, Dwivedi AK, Kuhlman G, Duker AP, Espay AJ, Mahajan A
Cerebellum 2023 Oct;22(5):1039-1044. Epub 2022 Sep 9 doi: 10.1007/s12311-022-01477-2. PMID: 36083463
Liao YH, Hong CT, Huang TW
Toxins (Basel) 2022 Mar 10;14(3) doi: 10.3390/toxins14030203. PMID: 35324700Free PMC Article
Paparella G, Angelini L, De Biase A, Cannavacciuolo A, Colella D, Di Bonaventura C, Giallonardo AT, Berardelli A, Bologna M
Cerebellum 2021 Jun;20(3):374-383. Epub 2020 Nov 16 doi: 10.1007/s12311-020-01216-5. PMID: 33200286Free PMC Article
Sharma S, Pandey S
Postgrad Med J 2020 Feb;96(1132):84-93. Epub 2019 Oct 1 doi: 10.1136/postgradmedj-2019-136647. PMID: 31575730

Prognosis

Shen J, Marsili L, Dwivedi AK, Kuhlman G, Duker AP, Espay AJ, Mahajan A
Cerebellum 2023 Oct;22(5):1039-1044. Epub 2022 Sep 9 doi: 10.1007/s12311-022-01477-2. PMID: 36083463
Cisneros E, Vu JP, Lee HY, Chen Q, Benadof CN, Zhang Z, Pettitt EA, Joshi SK, Barbano RL, Jankovic J, Jinnah HA, Perlmutter JS, Berman BD, Mahajan A, Goetz CG, Stebbins GT, Comella CL, Peterson DA
Tremor Other Hyperkinet Mov (N Y) 2021 Jun 23;11:21. doi: 10.5334/tohm.623. PMID: 34221696Free PMC Article
Mostile G, Terranova R, Rascunà C, Terravecchia C, Cicero CE, Giuliano L, Davì M, Chisari C, Luca A, Preux PM, Jankovic J, Zappia M, Nicoletti A
Parkinsonism Relat Disord 2021 Jun;87:124-129. Epub 2021 May 14 doi: 10.1016/j.parkreldis.2021.05.011. PMID: 34030068
Louis ED
Neuroepidemiology 2019;52(1-2):111-118. Epub 2019 Jan 9 doi: 10.1159/000492831. PMID: 30625472
DiMario FJ Jr
J Child Neurol 2000 Jan;15(1):22-5. doi: 10.1177/088307380001500105. PMID: 10641605

Clinical prediction guides

Marques A, Pereira B, Simonetta-Moreau M, Castelnovo G, De Verdal M, Fluchère F, Laurencin C, Degos B, Tir M, Kreisler A, Blanchet-Fourcade G, Guehl D, Colin O, Poujois A, Sangla S, Tatu L, Derost P, Gayraud D, Tranchant C, Amarantini D, Devos D, Rascol O, Corvol JC, Durif F, Rieu I; Btx-HT Study Group
N Engl J Med 2023 Nov 9;389(19):1753-1765. doi: 10.1056/NEJMoa2304192. PMID: 37937777
Albanese A, Bhatia KP, Cardoso F, Comella C, Defazio G, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Kaji R, Krauss JK, Lang A, Tan EK, Tijssen MAJ, Vidailhet M
Mov Disord 2023 Aug;38(8):1367-1378. Epub 2023 Mar 29 doi: 10.1002/mds.29387. PMID: 36989390Free PMC Article
Ferrazzano G, Belvisi D, De Bartolo MI, Baione V, Costanzo M, Fabbrini G, Defazio G, Berardelli A, Conte A
Parkinsonism Relat Disord 2022 Jan;94:10-12. Epub 2021 Nov 26 doi: 10.1016/j.parkreldis.2021.11.018. PMID: 34861560
Peng J, Wang L, Li N, Li J, Duan L, Peng R
Acta Neurol Scand 2020 Jul;142(1):74-82. Epub 2020 Mar 26 doi: 10.1111/ane.13242. PMID: 32176316
Louis ED
Neuroepidemiology 2019;52(1-2):111-118. Epub 2019 Jan 9 doi: 10.1159/000492831. PMID: 30625472

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