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Limb tremor

MedGen UID:
115980
Concept ID:
C0235081
Sign or Symptom
Synonyms: Limb Tremor; Limb Tremors; Tremor, Limb
 
HPO: HP:0200085

Conditions with this feature

Angelman syndrome
MedGen UID:
58144
Concept ID:
C0162635
Disease or Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year.
Agenesis of the corpus callosum with peripheral neuropathy
MedGen UID:
162893
Concept ID:
C0795950
Disease or Syndrome
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.
Deficiency of aromatic-L-amino-acid decarboxylase
MedGen UID:
220945
Concept ID:
C1291564
Disease or Syndrome
Aromatic L-amino acid decarboxylase deficiency (AADCD) is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency (Abeling et al., 2000). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by Brun et al., 2010).
Neuronal ceroid lipofuscinosis 5
MedGen UID:
376792
Concept ID:
C1850442
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
Syndromic X-linked intellectual disability 94
MedGen UID:
437111
Concept ID:
C2678051
Disease or Syndrome
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.
Peroxisome biogenesis disorder 8B
MedGen UID:
766874
Concept ID:
C3553960
Disease or Syndrome
The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100.
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).
Developmental and epileptic encephalopathy, 35
MedGen UID:
904159
Concept ID:
C4225256
Disease or Syndrome
Developmental and epileptic encephalopathy-35 (DEE35) is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015) For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Chilton-Okur-Chung neurodevelopmental syndrome
MedGen UID:
1803276
Concept ID:
C5677022
Disease or Syndrome
Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).

Professional guidelines

PubMed

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
Zakin E, Simpson D
Toxins (Basel) 2017 Nov 10;9(11) doi: 10.3390/toxins9110365. PMID: 29125566Free PMC Article
Schneider SA, Deuschl G
Neurotherapeutics 2014 Jan;11(1):128-38. doi: 10.1007/s13311-013-0230-5. PMID: 24142589Free PMC Article

Recent clinical studies

Etiology

Simpson HD, Duffy JR, Stierwalt JAG, Ahlskog JE, Hassan A
Parkinsonism Relat Disord 2022 May;98:41-46. Epub 2022 Apr 14 doi: 10.1016/j.parkreldis.2022.04.002. PMID: 35468498
Tykalová T, Rusz J, Švihlík J, Bancone S, Spezia A, Pellecchia MT
J Neural Transm (Vienna) 2020 Sep;127(9):1295-1304. Epub 2020 Jul 10 doi: 10.1007/s00702-020-02229-4. PMID: 32651925
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
Dagostino S, Ercoli T, Gigante AF, Pellicciari R, Fadda L, Defazio G
Parkinsonism Relat Disord 2019 Jun;63:221-223. Epub 2019 Jan 6 doi: 10.1016/j.parkreldis.2019.01.006. PMID: 30655163
Sa DS, Mailis-Gagnon A, Nicholson K, Lang AE
Mov Disord 2003 Dec;18(12):1482-91. doi: 10.1002/mds.10594. PMID: 14673885

Diagnosis

Powell A, Berry DS, Salinas M, Louis ED
J Neurol Sci 2023 Feb 15;445:120550. Epub 2023 Jan 13 doi: 10.1016/j.jns.2023.120550. PMID: 36669350Free PMC Article
Simpson HD, Duffy JR, Stierwalt JAG, Ahlskog JE, Hassan A
Parkinsonism Relat Disord 2022 May;98:41-46. Epub 2022 Apr 14 doi: 10.1016/j.parkreldis.2022.04.002. PMID: 35468498
van de Wardt J, van der Stouwe AMM, Dirkx M, Elting JWJ, Post B, Tijssen MA, Helmich RC
J Neurol Neurosurg Psychiatry 2020 Aug;91(8):822-830. Epub 2020 May 26 doi: 10.1136/jnnp-2019-322676. PMID: 32457087Free PMC Article
Murgai AA, Jog M
Toxicon 2020 Mar;176:10-14. Epub 2020 Jan 13 doi: 10.1016/j.toxicon.2020.01.004. PMID: 31965968
Kimber TE, Thompson PD
Med J Aust 2012 Apr 16;196(7):447-51. doi: 10.5694/mja11.11565. PMID: 22509875

Therapy

Samotus O, Mahdi Y, Jog M
Toxins (Basel) 2022 Aug 17;14(8) doi: 10.3390/toxins14080557. PMID: 36006219Free PMC Article
Murgai AA, Jog M
Toxicon 2020 Mar;176:10-14. Epub 2020 Jan 13 doi: 10.1016/j.toxicon.2020.01.004. PMID: 31965968
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
Zakin E, Simpson D
Toxins (Basel) 2017 Nov 10;9(11) doi: 10.3390/toxins9110365. PMID: 29125566Free PMC Article
Schneider SA, Deuschl G
Neurotherapeutics 2014 Jan;11(1):128-38. doi: 10.1007/s13311-013-0230-5. PMID: 24142589Free PMC Article

Prognosis

Erro R, Lazzeri G, Terranova C, Paparella G, Gigante AF, De Micco R, Magistrelli L, Di Biasio F, Valentino F, Moschella V, Pilotto A, Esposito M, Olivola E, Malaguti MC, Ceravolo R, Dallocchio C, Spagnolo F, Nicoletti A, De Rosa A, Di Giacopo R, Sorrentino C, Padovani A, Altavista MC, Pacchetti C, Marchese R, Contaldi E, Tessitore A, Misceo S, Bologna M, Rizzo V, Franco G, Barone P; TITAN study group
Mov Disord Clin Pract 2024 Jun;11(6):645-654. Epub 2024 Apr 9 doi: 10.1002/mdc3.14026. PMID: 38594807Free PMC Article
Rajput AH, Khayyam AA, Auer RN, Robinson CA, Rajput A
Parkinsonism Relat Disord 2021 May;86:1-4. Epub 2021 Mar 13 doi: 10.1016/j.parkreldis.2021.02.030. PMID: 33780872
Rajalingam R, Breen DP, Chen R, Fox S, Kalia LV, Munhoz RP, Slow E, Strafella AP, Lang AE, Fasano A
Parkinsonism Relat Disord 2019 Aug;65:165-171. Epub 2019 Jun 8 doi: 10.1016/j.parkreldis.2019.06.007. PMID: 31201091
Samotus O, Lee J, Jog M
PLoS One 2017;12(6):e0178670. Epub 2017 Jun 6 doi: 10.1371/journal.pone.0178670. PMID: 28586370Free PMC Article
Tinazzi M, Fasano A, Di Matteo A, Conte A, Bove F, Bovi T, Peretti A, Defazio G, Fiorio M, Berardelli A
Neurology 2013 Jan 1;80(1):76-84. Epub 2012 Dec 12 doi: 10.1212/WNL.0b013e31827b1a54. PMID: 23243072

Clinical prediction guides

Silsby M, Yiannikas C, Fois AF, Ng K, Kiernan MC, Fung VSC, Vucic S
J Peripher Nerv Syst 2023 Sep;28(3):415-424. Epub 2023 Jun 21 doi: 10.1111/jns.12574. PMID: 37314215
Powell A, Berry DS, Salinas M, Louis ED
J Neurol Sci 2023 Feb 15;445:120550. Epub 2023 Jan 13 doi: 10.1016/j.jns.2023.120550. PMID: 36669350Free PMC Article
Rajalingam R, Breen DP, Chen R, Fox S, Kalia LV, Munhoz RP, Slow E, Strafella AP, Lang AE, Fasano A
Parkinsonism Relat Disord 2019 Aug;65:165-171. Epub 2019 Jun 8 doi: 10.1016/j.parkreldis.2019.06.007. PMID: 31201091
Dagostino S, Ercoli T, Gigante AF, Pellicciari R, Fadda L, Defazio G
Parkinsonism Relat Disord 2019 Jun;63:221-223. Epub 2019 Jan 6 doi: 10.1016/j.parkreldis.2019.01.006. PMID: 30655163
Nandi D, Aziz TZ, Liu X, Stein JF
Mov Disord 2002;17 Suppl 3:S22-7. doi: 10.1002/mds.10139. PMID: 11948752

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