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Myoclonus, familial, 1(MYOCL1)

MedGen UID:: 761667
•Concept ID:: C3539916
•: Disease or Syndrome

Synonyms:	Familial cortical myoclonus; MYOCL1
SNOMED CT:	Familial cortical myoclonus (763770005); Familial myoclonus of cerebral cortex (763770005)

Gene (location): Gene(s) directly associated with this condition or phenotype.	NOL3 (16q22.1)

Monarch Initiative:	MONDO:0100093
OMIM®:	614937

Definition

Familial myoclonus-1 (MYOCL1) 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. [from OMIM]

Clinical features

From HPO

Cerebellar ataxia

MedGen UID:: 849
•Concept ID:: C0007758
•: Disease or Syndrome

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

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Myoclonus

MedGen UID:: 10234
•Concept ID:: C0027066
•: Finding

Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.

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Action tremor

MedGen UID:: 65875
•Concept ID:: C0234376
•: Sign or Symptom

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

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Action myoclonus

MedGen UID:: 155545
•Concept ID:: C0751354
•: Sign or Symptom

A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.

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Insomnia

MedGen UID:: 214589
•Concept ID:: C0917801
•: Sign or Symptom

Persistent difficulty initiating or maintaining sleep.

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Frequent falls

MedGen UID:: 163408
•Concept ID:: C0850703
•: Finding

See: Feature record | Search on this feature

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Abnormality of the musculoskeletal system
- Frequent falls
Abnormality of the nervous system

Professional guidelines

PubMed

Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.

Rossor T, Yeh EA, Khakoo Y, Angelini P, Hemingway C, Irani SR, Schleiermacher G, Santosh P, Lotze T, Dale RC, Deiva K, Hero B, Klein A, de Alarcon P, Gorman MP, Mitchell WG, Lim M; OMS Study Group
Neurol Neuroimmunol Neuroinflamm 2022 May;9(3) Epub 2022 Mar 8 doi: 10.1212/NXI.0000000000001153. PMID: 35260471 Free PMC Article

EFNS guidelines on diagnosis and treatment of primary dystonias.

Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J
Eur J Neurol 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x. PMID: 20482602

Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Guerrini R, Carrozzo R, Rinaldi R, Bonanni P
Paediatr Drugs 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. PMID: 14510623

See all (16)

Recent clinical studies

Etiology

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.

Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM
Epilepsia 2024 Mar;65(3):779-791. Epub 2023 Dec 23 doi: 10.1111/epi.17859. PMID: 38088023

A comprehensive narrative review of epilepsy with eyelid myoclonia.

Smith KM, Wirrell EC, Andrade DM, Choi H, Trenité DK, Knupp KG, Nordli DR Jr, Riva A, Stern JM, Striano P, Thiele EA, Zawar I
Epilepsy Res 2023 Jul;193:107147. Epub 2023 Apr 26 doi: 10.1016/j.eplepsyres.2023.107147. PMID: 37121024

Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.

Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy.

Hitomi T, Kobayashi K, Sakurai T, Ueda S, Jingami N, Kanazawa K, Matsumoto R, Takahashi R, Ikeda A
Epileptic Disord 2016 Mar;18(1):67-72. doi: 10.1684/epd.2016.0807. PMID: 26907167

Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.

Zhang S, Lei C, Liu P, Zhang M, Tao W, Liu H, Liu M
Neurosci Biobehav Rev 2015 Sep;56:180-92. Epub 2015 Jul 10 doi: 10.1016/j.neubiorev.2015.07.003. PMID: 26165445

See all (113)

Diagnosis

Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.

Dentatorubral-pallidoluysian Atrophy: An Update.

Carroll LS, Massey TH, Wardle M, Peall KJ
Tremor Other Hyperkinet Mov (N Y) 2018;8:577. Epub 2018 Oct 1 doi: 10.7916/D81N9HST. PMID: 30410817 Free PMC Article

Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy.

Hitomi T, Kobayashi K, Sakurai T, Ueda S, Jingami N, Kanazawa K, Matsumoto R, Takahashi R, Ikeda A
Epileptic Disord 2016 Mar;18(1):67-72. doi: 10.1684/epd.2016.0807. PMID: 26907167

Tardive tremor.

Stacy M, Jankovic J
Mov Disord 1992;7(1):53-7. doi: 10.1002/mds.870070110. PMID: 1348352

Familial essential myoclonus.

Korten JJ, Notermans SL, Frenken CW, Gabreels FJ, Joosten EM
Brain 1974 Mar;97(1):131-8. doi: 10.1093/brain/97.1.131. PMID: 4434166

See all (203)

Therapy

A comprehensive narrative review of epilepsy with eyelid myoclonia.

Parasomnias and Sleep-Related Movement Disorders in Older Adults.

Iranzo A
Sleep Med Clin 2018 Mar;13(1):51-61. Epub 2017 Nov 15 doi: 10.1016/j.jsmc.2017.09.005. PMID: 29412983

EFNS guidelines on diagnosis and treatment of primary dystonias.

Serotonin syndrome in Parkinson disease.

Weiss DM
J Am Board Fam Pract 1995 Sep-Oct;8(5):400-2. PMID: 7484228

Tardive tremor.

Stacy M, Jankovic J
Mov Disord 1992;7(1):53-7. doi: 10.1002/mds.870070110. PMID: 1348352

See all (52)

Prognosis

Parkinson's disease - genetic cause.

Cherian A, K P D, Vijayaraghavan A
Curr Opin Neurol 2023 Aug 1;36(4):292-301. Epub 2023 May 24 doi: 10.1097/WCO.0000000000001167. PMID: 37366140

Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.

Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.

Zhang S, Lei C, Liu P, Zhang M, Tao W, Liu H, Liu M
Neurosci Biobehav Rev 2015 Sep;56:180-92. Epub 2015 Jul 10 doi: 10.1016/j.neubiorev.2015.07.003. PMID: 26165445

Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature.

Footitt DR, Quinn N, Kocen RS, Oz B, Scaravilli F
J Neurol 1997 Jan;244(1):40-4. doi: 10.1007/s004150050048. PMID: 9007744

Early-onset Alzheimer's disease in 2 large Belgian families.

Martin JJ, Gheuens J, Bruyland M, Cras P, Vandenberghe A, Masters CL, Beyreuther K, Dom R, Ceuterick C, Lübke U
Neurology 1991 Jan;41(1):62-8. doi: 10.1212/wnl.41.1.62. PMID: 1985297

See all (108)

Clinical prediction guides

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.

van der Veen S, Tse GTW, Ferretti A, Garone G, Post B, Specchio N, Fung VSC, Trivisano M, Scheffer IE
Neurology 2023 Nov 7;101(19):e1884-e1892. Epub 2023 Sep 25 doi: 10.1212/WNL.0000000000207808. PMID: 37748886 Free PMC Article

Parkinson's disease - genetic cause.

Cherian A, K P D, Vijayaraghavan A
Curr Opin Neurol 2023 Aug 1;36(4):292-301. Epub 2023 May 24 doi: 10.1097/WCO.0000000000001167. PMID: 37366140

Novel Withdrawal Symptoms of a Neonate Prenatally Exposed to a Fentanyl Analog.

Nellhaus EM, Murray S, Hansen Z, Loudin S, Davies TH
J Pediatr Health Care 2019 Jan;33(1):102-106. Epub 2018 Nov 8 doi: 10.1016/j.pedhc.2018.08.014. PMID: 30415896

Loss of Function of KCNC1 is associated with intellectual disability without seizures.

Poirier K, Viot G, Lombardi L, Jauny C, Billuart P, Bienvenu T
Eur J Hum Genet 2017 May;25(5):560-564. Epub 2017 Feb 1 doi: 10.1038/ejhg.2017.3. PMID: 28145425 Free PMC Article

Instability of the EPM1 minisatellite.

Larson GP, Ding S, Lafrenière RG, Rouleau GA, Krontiris TG
Hum Mol Genet 1999 Oct;8(11):1985-8. doi: 10.1093/hmg/8.11.1985. PMID: 10484766

See all (127)

Recent systematic reviews

Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P
Epilepsia 2024 Mar;65(3):709-724. Epub 2024 Jan 17 doi: 10.1111/epi.17880. PMID: 38231304

Geniospasm: A systematic review on natural history, prognosis, and treatment.

Teng LY, Abd Hadi D, Anandakrishnan P, Murugesu S, Khoo TB, Mohamed AR
Brain Dev 2022 Sep;44(8):499-511. Epub 2022 Jun 4 doi: 10.1016/j.braindev.2022.05.005. PMID: 35672188

Movement disorders associated with neuronal antibodies: a data-driven approach.

Sturchio A, Dwivedi AK, Gastaldi M, Grimberg MB, Businaro P, Duque KR, Vizcarra JA, Abdelghany E, Balint B, Marsili L, Espay AJ
J Neurol 2022 Jul;269(7):3511-3521. Epub 2022 Jan 13 doi: 10.1007/s00415-021-10934-7. PMID: 35024921 Free PMC Article

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.

van den Ende T, Sharifi S, van der Salm SMA, van Rootselaar AF
Tremor Other Hyperkinet Mov (N Y) 2018;8:503. Epub 2018 Jan 23 doi: 10.7916/D85155WJ. PMID: 29416935 Free PMC Article

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.

Shea YF, Chu LW, Chan AO, Ha J, Li Y, Song YQ
J Formos Med Assoc 2016 Feb;115(2):67-75. Epub 2015 Aug 31 doi: 10.1016/j.jfma.2015.08.004. PMID: 26337232

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Myoclonus, familial, 1(MYOCL1)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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