Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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 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

Show all Hide all

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

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.

Gardella E, Møller RS
Epilepsia 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319. PMID: 31904124

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

See all (16)

Recent clinical studies

Etiology

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.

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

Psychogenic movement disorders in children and adolescents: an update.

Harris SR
Eur J Pediatr 2019 Apr;178(4):581-585. Epub 2019 Jan 11 doi: 10.1007/s00431-019-03317-8. PMID: 30635706

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

See all (110)

Diagnosis

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

Benign spasms of infancy: a mimicker of infantile epileptic disorders.

Ghossein J, Pohl D
Epileptic Disord 2019 Dec 1;21(6):585-589. doi: 10.1684/epd.2019.1116. PMID: 31843733

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

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

Tardive tremor.

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

See all (195)

Therapy

A comprehensive narrative review of epilepsy with eyelid myoclonia.

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: 36192771 Free PMC Article

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

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

Tardive tremor.

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

See all (50)

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

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.

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

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

See all (103)

Clinical prediction guides

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.

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

Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?

Wictorin K, Puschmann A
Neurol Neurochir Pol 2020;54(1):3-5. doi: 10.5603/PJNNS.a2020.0013. PMID: 32115676

Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.

Karve SJ, Ringman JM, Lee AS, Juarez KO, Mendez MF
J Neurol 2012 Oct;259(10):2182-8. Epub 2012 Mar 30 doi: 10.1007/s00415-012-6481-y. PMID: 22460587 Free PMC Article

See all (122)

Recent systematic reviews

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.

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

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: 28851777 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

See all (10)

MedGen

National Center for Biotechnology Information

Send to:

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

Consumer resources

Reviews

Related information

Recent activity