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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): NOL3 (16q22.1)
 
Monarch Initiative: MONDO:0100093
OMIM®: 614937

Definition

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. [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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Insomnia
MedGen UID:
214589
•Concept ID:
C0917801
•
Sign or Symptom
Persistent difficulty initiating or maintaining sleep.
See: Feature record | Search on this feature
Frequent falls
MedGen UID:
163408
•Concept ID:
C0850703
•
Finding
See: Feature record | Search on this feature
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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: 35260471Free 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

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.
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: 35260471Free PMC Article
Autoimmune dementia and encephalopathy.
Flanagan EP, Drubach DA, Boeve BF
Handb Clin Neurol 2016;133:247-67. doi: 10.1016/B978-0-444-63432-0.00014-1. PMID: 27112681
The monogenic primary dystonias.
Müller U
Brain 2009 Aug;132(Pt 8):2005-25. Epub 2009 Jul 3 doi: 10.1093/brain/awp172. PMID: 19578124

Diagnosis

Familial adult myoclonus epilepsy: a pragmatic approach.
Cherian A, Divya KP, Krishnan ARS
Acta Neurol Belg 2024 Apr;124(2):389-394. Epub 2023 Dec 19 doi: 10.1007/s13760-023-02432-6. PMID: 38114875
Stefin B Inhibits NLRP3 Inflammasome Activation via AMPK/mTOR Signalling.
Trstenjak-Prebanda M, Biasizzo M, Dolinar K, Pirkmajer S, Turk B, Brault V, Herault Y, Kopitar-Jerala N
Cells 2023 Nov 29;12(23) doi: 10.3390/cells12232731. PMID: 38067160Free PMC Article
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: 35260471Free PMC Article
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: 30410817Free PMC Article
Tardive tremor.
Stacy M, Jankovic J
Mov Disord 1992;7(1):53-7. doi: 10.1002/mds.870070110. PMID: 1348352

Therapy

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
Lafora disease: a case report.
Zeka N, Zogaj L, Gerguri A, Bejiqi R, Ratkoceri R, Maloku A, Mustafa A, Shahini L, Maxharaj J
J Med Case Rep 2022 Oct 3;16(1):360. doi: 10.1186/s13256-022-03537-x. PMID: 36192771Free PMC Article
Carbamazepine-, Oxcarbazepine-, Eslicarbazepine-Associated Movement Disorder: A Literature Review.
Rissardo JP, Caprara ALF
Clin Neuropharmacol 2020 May/Jun;43(3):66-80. doi: 10.1097/WNF.0000000000000387. PMID: 32384309
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
Tardive tremor.
Stacy M, Jankovic J
Mov Disord 1992;7(1):53-7. doi: 10.1002/mds.870070110. PMID: 1348352

Prognosis

Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1.
Ding Y, Cen Z, Zheng Y, Qiu X, Ye Y, Chen X, Hu L, Wang B, Wang Z, Yin H, Shen C, Ming W, Ge Y, Xie F, Yang D, Ouyang Z, Wang H, Wu S, Ding M, Wang S, Luo W
Ann Clin Transl Neurol 2024 Feb;11(2):414-423. Epub 2023 Dec 7 doi: 10.1002/acn3.51961. PMID: 38059543Free 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
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
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: 35260471Free PMC Article
Autosomal dominant cortical tremor, myoclonus and epilepsy.
Striano P, Zara F
Epileptic Disord 2016 Sep 1;18(S2):139-144. doi: 10.1684/epd.2016.0860. PMID: 27618961

Clinical prediction guides

CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy.
Gumusgoz E, Kasiri S, Verma M, Wu J, Villarreal Acha D, Marriam U, Fyffe-Maricich S, Lin A, Chen X, Gray SJ, Minassian BA
Gene Ther 2024 May;31(5-6):234-241. Epub 2023 Dec 22 doi: 10.1038/s41434-023-00433-x. PMID: 38135787
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: 37748886Free 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
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: 35024921Free PMC Article
Topiramate-Associated Movement Disorder: Case Series and Literature Review.
Rissardo JP, Caprara ALF
Clin Neuropharmacol 2020 Jul/Aug;43(4):116-120. doi: 10.1097/WNF.0000000000000395. PMID: 32541330

Recent systematic reviews

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
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: 35024921Free 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: 29416935Free PMC Article
Signs and symptoms preceding the diagnosis of Alzheimer's disease: a systematic scoping review of literature from 1937 to 2016.
Bature F, Guinn BA, Pang D, Pappas Y
BMJ Open 2017 Aug 28;7(8):e015746. doi: 10.1136/bmjopen-2016-015746. PMID: 28851777Free PMC Article

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