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Action tremor

MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
Synonyms: Action Tremor; Action Tremors; Tremor, Action
SNOMED CT: Action tremor (30721006)
 
HPO: HP:0002345

Definition

A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. [from HPO]

Conditions with this feature

Roussy-Lévy syndrome
MedGen UID:
64430
Concept ID:
C0205713
Disease or Syndrome
Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999).
Urocanate hydratase deficiency
MedGen UID:
120644
Concept ID:
C0268514
Disease or Syndrome
An increased concentration of urocanic acid in the urine.
gamma-Glutamyltransferase deficiency
MedGen UID:
82813
Concept ID:
C0268524
Disease or Syndrome
Level of glutathione in the urine above the upper limit of normal.
Action myoclonus-renal failure syndrome
MedGen UID:
155629
Concept ID:
C0751779
Disease or Syndrome
The action myoclonus-renal failure syndrome, also known as progressive myclonic epilepsy-4 with or without renal failure (EPM4), is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Spinocerebellar ataxia type 2
MedGen UID:
155704
Concept ID:
C0752121
Disease or Syndrome
Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.
X-linked progressive cerebellar ataxia
MedGen UID:
163229
Concept ID:
C0796205
Disease or Syndrome
SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar Ataxia X-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (302600), SCAX3 (301790), SCAX4 (301840), and SCAX5 (300703).
Spinocerebellar ataxia type 20
MedGen UID:
373352
Concept ID:
C1837541
Disease or Syndrome
Spinocerebellar ataxia type 20 (SCA20) is characterized by a slowly progressive ataxia and dysarthria. Approximately two thirds of those affected also display palatal tremor ("myoclonus") and/or abnormal phonation clinically resembling spasmodic adductor dysphonia. Dysarthria, which may be abrupt in onset, precedes the onset of ataxia in about two thirds of affected individuals, sometimes by a number of years. Hypermetric horizontal saccades (without nystagmus or disturbance of vestibulo-ocular reflex gain) are seen in about half of affected persons. Although minor pyramidal signs (brisk knee jerks, crossed adductor spread) may be seen, spasticity and extensor plantar responses are not. Cognition is normal. Clinical information is based on the findings in 16 personally examined affected members of a single Australian family of Anglo-Celtic descent.
Fragile X-associated tremor/ataxia syndrome
MedGen UID:
333403
Concept ID:
C1839780
Disease or Syndrome
FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population.
Biotin-responsive basal ganglia disease
MedGen UID:
375289
Concept ID:
C1843807
Disease or Syndrome
Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. The classic presentation of BTBGD occurs in childhood (age 3-10 years) and is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia which, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. An early-infantile Leigh-like syndrome / atypical infantile spasms presentation occurs in the first three months of life with poor feeding, vomiting, acute encephalopathy, and severe lactic acidosis. An adult-onset Wernicke-like encephalopathy presentation is characterized by acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia in the second decade of life. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation with biotin and thiamine.
Syndromic X-linked intellectual disability Hedera type
MedGen UID:
337257
Concept ID:
C1845543
Disease or Syndrome
The Hedera type of X-linked syndromic intellectual developmental disorder (MRXSH) is characterized by global developmental delay apparent from infancy and progressive neurologic decline with abnormal movements, spasticity, and seizures. Brain imaging shows volume loss of cortical white and gray matter, thin corpus callosum, and myelination defects, consistent with a neurodegenerative process. Only males are affected (summary by Hirose et al., 2019).
Spinocerebellar ataxia type 15/16
MedGen UID:
338301
Concept ID:
C1847725
Disease or Syndrome
Spinocerebellar ataxia type 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor, mild hyperreflexia, gaze-evoked nystagmus, and impaired vestibuloocular reflex gain. Onset is between ages seven and 72 years, usually with gait ataxia but sometimes with tremor. Affected individuals remain ambulatory for ten to 54 years after symptom onset. Mild dysphagia usually after two or more decades of symptoms has been observed in members of multiple affected families and movement-induced oscillopsia has been described in one member of an affected family.
Huntington disease-like 2
MedGen UID:
341120
Concept ID:
C1847987
Disease or Syndrome
Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities which lead to death within ten to 20 years. HDL2 cannot be differentiated from Huntington disease clinically. Neurologic abnormalities include chorea, hypokinesia (rigidity, bradykinesia), dysarthria, and hyperreflexia in the later stages of the disease. There is a strong correlation between the duration of the disease and the progression of the motor and cognitive disorder.
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.
Tremor, hereditary essential, 1
MedGen UID:
349909
Concept ID:
C1860861
Disease or Syndrome
Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997). Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential Tremor Other forms of hereditary essential tremor include ETM2 (602134), mapped to chromosome 2p25-p22; ETM3 (611456), mapped to chromosome 6p23; ETM4 (614782), caused by mutation in the FUS gene (137070) on chromosome 16p11; ETM5 (616736), caused by mutation in the TENM4 gene (610084) on chromosome 11q14; and ETM6 (618866), caused by mutation in the NOTCH2NLC gene (618025) on chromosome 1q21.
X-linked non progressive cerebellar ataxia
MedGen UID:
394718
Concept ID:
C2678048
Disease or Syndrome
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
Tremor, hereditary essential, 4
MedGen UID:
761337
Concept ID:
C3539195
Disease or Syndrome
Any essential tremor in which the cause of the disease is a mutation in the FUS gene.
Myoclonus, familial, 1
MedGen UID:
761667
Concept ID:
C3539916
Disease or Syndrome
Familial myoclonus-1 is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012). Genetic Heterogeneity of Familial Myoclonus Also see MYOCL2 (618364), caused by mutation in the SCN8A gene (600702) on chromosome 12q13.
Dystonia 27
MedGen UID:
907580
Concept ID:
C4225336
Disease or Syndrome
Dystonia-27 (DYT27) is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015).
Lichtenstein-Knorr syndrome
MedGen UID:
898996
Concept ID:
C4225383
Disease or Syndrome
Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015). Some patients with SLC9A1 mutations may not have deafness (Iwama et al., 2018)
Developmental and epileptic encephalopathy, 56
MedGen UID:
1621755
Concept ID:
C4540034
Disease or Syndrome
Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
MedGen UID:
1638681
Concept ID:
C4554120
Disease or Syndrome
CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic findings include mild ataxia (action tremor and gait instability following initially normal motor development; occasionally, mild spasticity), cognitive impairment in some (typically mild, rarely severe), psychiatric symptoms in some (depression and schizophrenia-like symptoms), headaches in some (usually intermittent, severe, and diffuse) and auditory symptoms in some (hearing loss, tinnitus, vertigo). Affected individuals remain ambulatory, do not require support for walking, and rarely become blind. To date CLCN2-related leukoencephalopathy has been reported or identified in 31 individuals from 30 families. It is not yet known if the findings occurring in a few individuals (i.e., epilepsy and paroxysmal kinesigenic dyskinesia) are part of the phenotypic spectrum or unrelated findings.
Parkinsonism-dystonia 3, childhood-onset
MedGen UID:
1808365
Concept ID:
C5676913
Disease or Syndrome
Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances (summary by Burke et al., 2018 and Skorvanek et al., 2022). For a discussion of genetic heterogeneity of PKDYS, see 613135.
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).
Congenital disorder of deglycosylation 1
MedGen UID:
989503
Concept ID:
CN306977
Disease or Syndrome
Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.

Professional guidelines

PubMed

Pirker W, Katzenschlager R, Hallett M, Poewe W
J Parkinsons Dis 2023;13(2):127-144. doi: 10.3233/JPD-225060. PMID: 36847017Free PMC Article
Wagle Shukla A
Continuum (Minneap Minn) 2022 Oct 1;28(5):1333-1349. doi: 10.1212/CON.0000000000001181. PMID: 36222768
Shanker V
BMJ 2019 Aug 5;366:l4485. doi: 10.1136/bmj.l4485. PMID: 31383632

Recent clinical studies

Etiology

Louis ED
Handb Clin Neurol 2023;196:389-401. doi: 10.1016/B978-0-323-98817-9.00012-0. PMID: 37620080
Ferreira Felloni Borges Y, Cheyuo C, Lozano AM, Fasano A
Expert Rev Neurother 2023 Jul-Dec;23(7):603-619. Epub 2023 Jun 8 doi: 10.1080/14737175.2023.2221789. PMID: 37288812
Hopfner F, Höglinger GU, Kuhlenbäumer G, Pottegård A, Wod M, Christensen K, Tanner CM, Deuschl G
Lancet Neurol 2020 Mar;19(3):247-254. Epub 2020 Jan 27 doi: 10.1016/S1474-4422(19)30400-4. PMID: 31999942
Hopfner F, Deuschl G
Eur J Neurol 2018 Jan;25(1):71-82. Epub 2017 Oct 16 doi: 10.1111/ene.13454. PMID: 28905504
Perlman SL
Handb Clin Neurol 2011;100:113-40. doi: 10.1016/B978-0-444-52014-2.00006-9. PMID: 21496573

Diagnosis

Louis ED
Handb Clin Neurol 2023;196:389-401. doi: 10.1016/B978-0-323-98817-9.00012-0. PMID: 37620080
Wagle Shukla A
Continuum (Minneap Minn) 2022 Oct 1;28(5):1333-1349. doi: 10.1212/CON.0000000000001181. PMID: 36222768
Shanker V
BMJ 2019 Aug 5;366:l4485. doi: 10.1136/bmj.l4485. PMID: 31383632
Louis ED
Continuum (Minneap Minn) 2019 Aug;25(4):959-975. doi: 10.1212/CON.0000000000000748. PMID: 31356289
Reich SG
Med Clin North Am 2019 Mar;103(2):351-356. doi: 10.1016/j.mcna.2018.10.016. PMID: 30704686

Therapy

Pirker W, Katzenschlager R, Hallett M, Poewe W
J Parkinsons Dis 2023;13(2):127-144. doi: 10.3233/JPD-225060. PMID: 36847017Free PMC Article
Frei K, Truong DD
J Neurol Sci 2022 Apr 15;435:120194. Epub 2022 Feb 19 doi: 10.1016/j.jns.2022.120194. PMID: 35279634
Shanker V
BMJ 2019 Aug 5;366:l4485. doi: 10.1136/bmj.l4485. PMID: 31383632
Louis ED
Continuum (Minneap Minn) 2019 Aug;25(4):959-975. doi: 10.1212/CON.0000000000000748. PMID: 31356289
Reich SG
Med Clin North Am 2019 Mar;103(2):351-356. doi: 10.1016/j.mcna.2018.10.016. PMID: 30704686

Prognosis

Luitel P, Neupane N, Paudel S, Adhikari N, Timilsina B, Suryabanshi A, Gyawali P, Ojha R
Tremor Other Hyperkinet Mov (N Y) 2023;13:34. Epub 2023 Sep 13 doi: 10.5334/tohm.776. PMID: 37719089Free PMC Article
Simonet C, Mahlknecht P, Marini K, Seppi K, Gill A, Bestwick JP, Lees AJ, Giovannoni G, Schrag A, Noyce AJ
Mov Disord 2023 Sep;38(9):1636-1644. Epub 2023 Jun 15 doi: 10.1002/mds.29496. PMID: 37317903
Louis ED, Faust PL
Cerebellum 2020 Dec;19(6):879-896. doi: 10.1007/s12311-020-01160-4. PMID: 32666285Free PMC Article
Manto M
Handb Clin Neurol 2018;154:151-166. doi: 10.1016/B978-0-444-63956-1.00009-6. PMID: 29903437
Baumann CR
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S90-2. doi: 10.1016/S1353-8020(11)70029-3. PMID: 22166466

Clinical prediction guides

Luitel P, Neupane N, Paudel S, Adhikari N, Timilsina B, Suryabanshi A, Gyawali P, Ojha R
Tremor Other Hyperkinet Mov (N Y) 2023;13:34. Epub 2023 Sep 13 doi: 10.5334/tohm.776. PMID: 37719089Free PMC Article
Hopfner F, Höglinger GU, Kuhlenbäumer G, Pottegård A, Wod M, Christensen K, Tanner CM, Deuschl G
Lancet Neurol 2020 Mar;19(3):247-254. Epub 2020 Jan 27 doi: 10.1016/S1474-4422(19)30400-4. PMID: 31999942
Roper JA, Terza MJ, De Jesus S, Jacobson CE 4th, Hess CW, Hass CJ
Gait Posture 2019 Jun;71:32-37. Epub 2019 Apr 14 doi: 10.1016/j.gaitpost.2019.04.004. PMID: 31004995
Pan MK, Ni CL, Wu YC, Li YS, Kuo SH
Tremor Other Hyperkinet Mov (N Y) 2018;8:587. Epub 2018 Oct 9 doi: 10.7916/D89S37MV. PMID: 30402338Free PMC Article
Manto M
Handb Clin Neurol 2018;154:151-166. doi: 10.1016/B978-0-444-63956-1.00009-6. PMID: 29903437

Recent systematic reviews

Luitel P, Neupane N, Paudel S, Adhikari N, Timilsina B, Suryabanshi A, Gyawali P, Ojha R
Tremor Other Hyperkinet Mov (N Y) 2023;13:34. Epub 2023 Sep 13 doi: 10.5334/tohm.776. PMID: 37719089Free PMC Article
Chang SJ, Mitchell R, Hukin J, Singhal A
J Neurosurg Pediatr 2022 May 1;29(5):520-527. Epub 2022 Feb 11 doi: 10.3171/2021.12.PEDS21539. PMID: 35148507
van der Stouwe AMM, Everlo CSJ, Tijssen MAJ
Parkinsonism Relat Disord 2019 Dec;69:71-78. Epub 2019 Oct 19 doi: 10.1016/j.parkreldis.2019.10.017. PMID: 31698217

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