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Tremor, hereditary essential, 5(ETM5)

MedGen UID:
897748
•Concept ID:
C4225223
•
Disease or Syndrome
Synonym: ETM5
 
Gene (location): TENM4 (11q14.1)
 
Monarch Initiative: MONDO:0014756
OMIM®: 616736

Definition

Hereditary essential tremor-5 is an autosomal dominant neurologic disorder characterized by kinetic, intention, and/or postural tremor mainly affecting the upper limbs. The age at onset and severity are highly variable, even within families (summary by Hor et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300). [from OMIM]

Clinical features

From HPO
Bradykinesia
MedGen UID:
115925
•Concept ID:
C0233565
•
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
See: Feature record | Search on this feature
Postural tremor
MedGen UID:
66696
•Concept ID:
C0234378
•
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
See: Feature record | Search on this feature
Tongue tremor
MedGen UID:
1630956
•Concept ID:
C0241446
•
Finding
An unintentional, oscillating to-and-fro muscle movement affecting the tongue.
See: Feature record | Search on this feature
Intention tremor
MedGen UID:
1642960
•Concept ID:
C4551520
•
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
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

Professional guidelines

PubMed

Epidemiology and management of essential tremor in children.
Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596
Diagnostic criteria for essential tremor and differential diagnosis.
Elble RJ
Neurology 2000;54(11 Suppl 4):S2-6. PMID: 10854344
Tremor disorders of aging: diagnosis and management.
Koller WC, Huber SJ
Geriatrics 1989 May;44(5):33-6, 41. PMID: 2651214

Recent clinical studies

Etiology

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
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
Asymmetric postural tremor preceding DOPA-responsive Parkinsonism - the transition disease.
Wolters A, Walter U, Wittstock M, Benecke R
J Parkinsons Dis 2014;4(1):45-55. doi: 10.3233/JPD-130287. PMID: 24398659
Epidemiology and management of essential tremor in children.
Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596

Diagnosis

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
Diagnosis of orthostatic tremor using smartphone accelerometry.
Calvo NE, Ferrara JM
BMC Neurol 2021 Nov 22;21(1):457. doi: 10.1186/s12883-021-02486-0. PMID: 34809610Free PMC Article
Epidemiology and management of essential tremor in children.
Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596
Diagnostic criteria for essential tremor and differential diagnosis.
Elble RJ
Neurology 2000;54(11 Suppl 4):S2-6. PMID: 10854344
Tremor disorders of aging: diagnosis and management.
Koller WC, Huber SJ
Geriatrics 1989 May;44(5):33-6, 41. PMID: 2651214

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
Asymmetric postural tremor preceding DOPA-responsive Parkinsonism - the transition disease.
Wolters A, Walter U, Wittstock M, Benecke R
J Parkinsons Dis 2014;4(1):45-55. doi: 10.3233/JPD-130287. PMID: 24398659
Epidemiology and management of essential tremor in children.
Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596
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

Prognosis

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

Clinical prediction guides

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
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
Asymmetric postural tremor preceding DOPA-responsive Parkinsonism - the transition disease.
Wolters A, Walter U, Wittstock M, Benecke R
J Parkinsons Dis 2014;4(1):45-55. doi: 10.3233/JPD-130287. PMID: 24398659
Linkage analysis with chromosome 9 markers in hereditary essential tremor.
Conway D, Bain PG, Warner TT, Davis MB, Findley LJ, Thompson PD, Marsden CD, Harding AE
Mov Disord 1993 Jul;8(3):374-6. doi: 10.1002/mds.870080324. PMID: 8341306

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