U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Polymyoclonus, infantile

MedGen UID:
376647
•Concept ID:
C1849731
•
Disease or Syndrome
Synonym: Infantile polymyoclonus
 
Monarch Initiative: MONDO:0009896
OMIM®: 263550

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
Irritability
MedGen UID:
397841
•Concept ID:
C2700617
•
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
See: Search on this feature
Chaotic rapid conjugate ocular movements
MedGen UID:
870463
•Concept ID:
C4024909
•
Finding
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Repetitive sleep starts: An important differential diagnosis of infantile spasms.
Maki Y, Kidokoro H, Okumura A, Yamamoto H, Nakata T, Fukasawa T, Kubota T, Kawaguchi M, Suzuki T, Tanaka M, Okai Y, Sakaguchi Y, Ohno A, Negoro T, Takahashi Y, Natsume J
Epilepsy Behav 2021 Aug;121(Pt A):108075. Epub 2021 May 30 doi: 10.1016/j.yebeh.2021.108075. PMID: 34077901
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
From genotype to phenotype in Dravet disease.
Gataullina S, Dulac O
Seizure 2017 Jan;44:58-64. Epub 2016 Oct 21 doi: 10.1016/j.seizure.2016.10.014. PMID: 27817982

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
Involuntary Movements in Cobalamin Deficiency.
Özyürek H, Ince H, Tasdemir HA, Aydin OF
Klin Padiatr 2024 Jul;236(4):223-228. Epub 2023 Jun 28 doi: 10.1055/a-2085-8461. PMID: 37380026
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P
Epilepsia 2023 Aug;64(8):e164-e169. Epub 2023 Mar 9 doi: 10.1111/epi.17557. PMID: 36810721
The phenotype of SCN8A developmental and epileptic encephalopathy.
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS
Neurology 2018 Sep 18;91(12):e1112-e1124. Epub 2018 Aug 31 doi: 10.1212/WNL.0000000000006199. PMID: 30171078
Inherited epilepsies of childhood.
Buchhalter JR
J Child Neurol 1994 Oct;9 Suppl 1:S12-9. doi: 10.1177/0883073894009001041. PMID: 7822747

Diagnosis

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
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA
Mov Disord 2022 Nov;37(11):2197-2209. Epub 2022 Aug 25 doi: 10.1002/mds.29182. PMID: 36054588Free PMC Article
Genetic Epilepsy Syndromes.
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Sialidoses.
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198
Epileptic encephalopathy.
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318

Therapy

Involuntary Movements in Cobalamin Deficiency.
Özyürek H, Ince H, Tasdemir HA, Aydin OF
Klin Padiatr 2024 Jul;236(4):223-228. Epub 2023 Jun 28 doi: 10.1055/a-2085-8461. PMID: 37380026
From genotype to phenotype in Dravet disease.
Gataullina S, Dulac O
Seizure 2017 Jan;44:58-64. Epub 2016 Oct 21 doi: 10.1016/j.seizure.2016.10.014. PMID: 27817982
Epileptic encephalopathies: a brief overview.
Nabbout R, Dulac O
J Clin Neurophysiol 2003 Nov-Dec;20(6):393-7. doi: 10.1097/00004691-200311000-00002. PMID: 14734929
Epileptic encephalopathy.
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318
Newer antiepileptic drugs: advantages and disadvantages.
Wallace SJ
Brain Dev 2001 Aug;23(5):277-83. doi: 10.1016/s0387-7604(01)00230-3. PMID: 11504596

Prognosis

GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Novelli M, Galosi S, Zorzi G, Martinelli S, Capuano A, Nardecchia F, Granata T, Pollini L, Di Rocco M, Marras CE, Nardocci N, Leuzzi V
Parkinsonism Relat Disord 2023 Jun;111:105405. Epub 2023 Apr 29 doi: 10.1016/j.parkreldis.2023.105405. PMID: 37142469
Genetic Epilepsy Syndromes.
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
From genotype to phenotype in Dravet disease.
Gataullina S, Dulac O
Seizure 2017 Jan;44:58-64. Epub 2016 Oct 21 doi: 10.1016/j.seizure.2016.10.014. PMID: 27817982
Phenotypic insights into ADCY5-associated disease.
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS
Mov Disord 2016 Jul;31(7):1033-40. Epub 2016 Apr 8 doi: 10.1002/mds.26598. PMID: 27061943Free PMC Article
Management issues in severe childhood epilepsies.
Wallace SJ
Seizure 1995 Sep;4(3):215-20. doi: 10.1016/s1059-1311(05)80064-0. PMID: 7582657

Clinical prediction guides

Involuntary Movements in Cobalamin Deficiency.
Özyürek H, Ince H, Tasdemir HA, Aydin OF
Klin Padiatr 2024 Jul;236(4):223-228. Epub 2023 Jun 28 doi: 10.1055/a-2085-8461. PMID: 37380026
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
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA
Mov Disord 2022 Nov;37(11):2197-2209. Epub 2022 Aug 25 doi: 10.1002/mds.29182. PMID: 36054588Free PMC Article
Tremor-like subcortical myoclonus in STXBP1 encephalopathy.
Loussouarn A, Doummar D, Beaugendre Y, Bienvenu T, Charles P, Depienne C, Dorison N, Heide S, Héron D, Ioos C, Keren B, Métreau J, Mochel F, Moutard ML, Ravelli C, Apartis E, Mignot C
Eur J Paediatr Neurol 2021 Sep;34:62-66. Epub 2021 Jul 3 doi: 10.1016/j.ejpn.2021.06.005. PMID: 34392114
Sialidoses.
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198

Recent systematic reviews

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M
Parkinsonism Relat Disord 2019 May;62:215-220. Epub 2018 Nov 29 doi: 10.1016/j.parkreldis.2018.11.027. PMID: 30522958

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...