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Tremor, hereditary essential, 2(ETM2)

MedGen UID:
356087
•Concept ID:
C1865810
•
Disease or Syndrome
Synonym: ETM2
 
Monarch Initiative: MONDO:0011201
OMIM®: 602134

Clinical features

From HPO
Fatigue
MedGen UID:
41971
•Concept ID:
C0015672
•
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
See: Feature record | Search on this feature
Upper limb postural tremor
MedGen UID:
357212
•Concept ID:
C1867138
•
Finding
A type of tremors that is triggered by holding an arm in a fixed position.
See: Feature record | Search on this feature
Kinetic tremor
MedGen UID:
1638576
•Concept ID:
C4551521
•
Sign or Symptom
Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Cellular density in the cerebellar molecular layer in essential tremor, spinocerebellar ataxia, and controls.
Louis RJ, Lee M, Kuo SH, Vonsattel JP, Louis ED, Faust PL
Parkinsonism Relat Disord 2014 Nov;20(11):1270-3. Epub 2014 Sep 3 doi: 10.1016/j.parkreldis.2014.08.014. PMID: 25218844Free PMC Article
Ultrasonographic (TCS) and clinical findings in overlapping phenotype of essential tremor and Parkinson's disease (ET-PD).
Laučkaitė K, Rastenytė D, Šurkienė D, Vaidelytė B, Dambrauskaitė G, Sakalauskas A, Vaitkus A, Gleiznienė R
BMC Neurol 2014 Mar 22;14:54. doi: 10.1186/1471-2377-14-54. PMID: 24655437Free PMC Article
A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.
Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, Strongosky AJ, Vilariño-Güell C, Farrer MJ, Ross OA, Dickson DW, Wszolek ZK
Neurology 2011 May 10;76(19):1623-30. doi: 10.1212/WNL.0b013e318219fb42. PMID: 21555728Free PMC Article
Hereditary motor-sensory neuropathy and movement disorders.
Cardoso FE, Jankovic J
Muscle Nerve 1993 Sep;16(9):904-10. doi: 10.1002/mus.880160904. PMID: 8355721
Young onset Parkinson's disease.
Quinn N, Critchley P, Marsden CD
Mov Disord 1987;2(2):73-91. doi: 10.1002/mds.870020201. PMID: 3504266

Diagnosis

Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study.
Buijink AW, Broersma M, van der Stouwe AM, Sharifi S, Tijssen MA, Speelman JD, Maurits NM, van Rootselaar AF
Cerebellum 2016 Dec;15(6):696-704. doi: 10.1007/s12311-015-0734-0. PMID: 26519379Free PMC Article
Ultrasonographic (TCS) and clinical findings in overlapping phenotype of essential tremor and Parkinson's disease (ET-PD).
Laučkaitė K, Rastenytė D, Šurkienė D, Vaidelytė B, Dambrauskaitė G, Sakalauskas A, Vaitkus A, Gleiznienė R
BMC Neurol 2014 Mar 22;14:54. doi: 10.1186/1471-2377-14-54. PMID: 24655437Free PMC Article
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Ponka P
Ann N Y Acad Sci 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. PMID: 15105272
Essential (hereditary or senile) tremor.
Sutherland JM, Edwards VE, Eadie MJ
Med J Aust 1975 Jul 12;2(2):44-7. doi: 10.5694/j.1326-5377.1975.tb95098.x. PMID: 1160721

Therapy

Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA).
Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M
J Neurol Neurosurg Psychiatry 2020 Oct;91(10):1085-1091. doi: 10.1136/jnnp-2020-322949. PMID: 32934110
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Risk factors and demographics in patients with spasmodic dysphonia.
Schweinfurth JM, Billante M, Courey MS
Laryngoscope 2002 Feb;112(2):220-3. doi: 10.1097/00005537-200202000-00004. PMID: 11889373
Young onset Parkinson's disease.
Quinn N, Critchley P, Marsden CD
Mov Disord 1987;2(2):73-91. doi: 10.1002/mds.870020201. PMID: 3504266
Essential (hereditary or senile) tremor.
Sutherland JM, Edwards VE, Eadie MJ
Med J Aust 1975 Jul 12;2(2):44-7. doi: 10.5694/j.1326-5377.1975.tb95098.x. PMID: 1160721

Prognosis

Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Specificity of transcranial sonography in parkinson spectrum disorders in comparison to degenerative cognitive syndromes.
Laučkaitė K, Rastenytė D, Šurkienė D, Vaitkus A, Sakalauskas A, Lukoševičius A, Gleiznienė R
BMC Neurol 2012 Mar 8;12:12. doi: 10.1186/1471-2377-12-12. PMID: 22400906Free PMC Article
Electrophysiologic transition from physiologic tremor to essential tremor.
Elble RJ, Higgins C, Elble S
Mov Disord 2005 Aug;20(8):1038-42. doi: 10.1002/mds.20487. PMID: 15852370
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Ponka P
Ann N Y Acad Sci 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. PMID: 15105272
Rare causes of hereditary iron overload.
Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200

Clinical prediction guides

Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study.
Buijink AW, Broersma M, van der Stouwe AM, Sharifi S, Tijssen MA, Speelman JD, Maurits NM, van Rootselaar AF
Cerebellum 2016 Dec;15(6):696-704. doi: 10.1007/s12311-015-0734-0. PMID: 26519379Free PMC Article
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.
Clark LN, Ye X, Liu X, Mirzozoda K, Louis ED
Parkinsonism Relat Disord 2015 Aug;21(8):943-7. Epub 2015 Jun 6 doi: 10.1016/j.parkreldis.2015.06.004. PMID: 26077168Free PMC Article
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Ponka P
Ann N Y Acad Sci 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. PMID: 15105272
Rare causes of hereditary iron overload.
Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200
Hereditary motor-sensory neuropathy and movement disorders.
Cardoso FE, Jankovic J
Muscle Nerve 1993 Sep;16(9):904-10. doi: 10.1002/mus.880160904. PMID: 8355721

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