Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Progressive myoclonic epilepsy type 5

MedGen UID:: 1681621
•Concept ID:: C5190799
•: Disease or Syndrome

Synonyms:	EPM5; PME (progressive myoclonic epilepsy) type 5; PME type 5; Progressive myoclonus epilepsy type 5
SNOMED CT:	Progressive myoclonus epilepsy type 5 (783055005); Progressive myoclonic epilepsy type 5 (783055005); PME (progressive myoclonic epilepsy) type 5 (783055005)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Orphanet:	ORPHA402082

Definition

A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVProgressive myoclonic epilepsy type 5

Disorder by Site
- Disorder of nervous system
  - Disorder of the central nervous system
    - Brain disorder
      - Epilepsy
        Progressive myoclonic epilepsy
        Progressive myoclonic epilepsy type 5

Professional guidelines

PubMed

A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.

Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766

Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery.

Chang JC, Liu KH, Chuang CS, Su HL, Wei YH, Kuo SJ, Liu CS
Cytotherapy 2013 Dec;15(12):1580-96. doi: 10.1016/j.jcyt.2013.06.008. PMID: 24199594

In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

Masucci JP, Davidson M, Koga Y, Schon EA, King MP
Mol Cell Biol 1995 May;15(5):2872-81. doi: 10.1128/MCB.15.5.2872. PMID: 7739567 Free PMC Article

See all (3)

Recent clinical studies

Etiology

A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.

Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766

Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures.

Macdonald M, Crawford J, Datta AN
J Child Neurol 2021 Oct;36(11):1027-1033. Epub 2021 Jul 27 doi: 10.1177/08830738211026072. PMID: 34315269

The Expanding Clinical Universe of Polyglutamine Disease.

Huang S, Zhu S, Li XJ, Li S
Neuroscientist 2019 Oct;25(5):512-520. Epub 2019 Jan 7 doi: 10.1177/1073858418822993. PMID: 30614396 Free PMC Article

Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.

Lehesjoki AE, Koskiniemi M
Ann Med 1998 Oct;30(5):474-80. doi: 10.3109/07853899809002489. PMID: 9814834

Homovanillic acid and 5-hydroxyindoleacetic acid levels in cerebrospinal fluid of patients with progressive myoclonus epilepsy.

Leino E, MacDonald E, Airaksinen MM, Riekkinen PJ
Acta Neurol Scand 1980 Jul;62(1):41-54. doi: 10.1111/j.1600-0404.1980.tb03002.x. PMID: 6163302

See all (23)

Diagnosis

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

Mitochondrial biogenesis: pharmacological approaches.

Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures.

Kaminska A, Oguni H
Handb Clin Neurol 2013;111:641-52. doi: 10.1016/B978-0-444-52891-9.00067-1. PMID: 23622212

Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.

Lehesjoki AE, Koskiniemi M
Ann Med 1998 Oct;30(5):474-80. doi: 10.3109/07853899809002489. PMID: 9814834

Epilepsy in children.

Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

See all (33)

Therapy

A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.

Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766

Mitochondrial biogenesis: pharmacological approaches.

Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.

Lehesjoki AE, Koskiniemi M
Ann Med 1998 Oct;30(5):474-80. doi: 10.3109/07853899809002489. PMID: 9814834

Epilepsy in children.

Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Clinical, biochemical, and physiological features distinguishing myoclonus responsive to 5-hydroxytryptophan, tryptophan with a monoamine oxidase inhibitor, and clonazepam.

Chadwick D, Hallett M, Harris R, Jenner P, Reynolds EH, Marsden CD
Brain 1977 Sep;100(3):455-87. doi: 10.1093/brain/100.3.455. PMID: 412560

See all (18)

Prognosis

Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures.

Macdonald M, Crawford J, Datta AN
J Child Neurol 2021 Oct;36(11):1027-1033. Epub 2021 Jul 27 doi: 10.1177/08830738211026072. PMID: 34315269

Mitochondrial biogenesis: pharmacological approaches.

Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures.

Kaminska A, Oguni H
Handb Clin Neurol 2013;111:641-52. doi: 10.1016/B978-0-444-52891-9.00067-1. PMID: 23622212

Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.

Lehesjoki AE, Koskiniemi M
Ann Med 1998 Oct;30(5):474-80. doi: 10.3109/07853899809002489. PMID: 9814834

Epilepsy in children.

Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

See all (18)

Clinical prediction guides

A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.

Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Pondrelli F, Muccioli L, Licchetta L, Mostacci B, Zenesini C, Tinuper P, Vignatelli L, Bisulli F
Orphanet J Rare Dis 2021 Aug 16;16(1):362. doi: 10.1186/s13023-021-01989-w. PMID: 34399803 Free PMC Article

Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures.

Macdonald M, Crawford J, Datta AN
J Child Neurol 2021 Oct;36(11):1027-1033. Epub 2021 Jul 27 doi: 10.1177/08830738211026072. PMID: 34315269

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF
Ann Neurol 2017 May;81(5):677-689. doi: 10.1002/ana.24929. PMID: 28380698

Mitochondrial biogenesis: pharmacological approaches.

Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

See all (27)

Recent systematic reviews

Diagnosis and treatment of status epilepticus in Down Syndrome (DS): A case report and systematic literature review.

Corniello C, Dono F, Evangelista G, Thomas A, Onofrj M, Sensi SL
Seizure 2024 Jan;114:90-95. Epub 2023 Nov 20 doi: 10.1016/j.seizure.2023.11.009. PMID: 38101201

A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.

Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

See all (4)

MedGen

National Center for Biotechnology Information

Send to:

Progressive myoclonic epilepsy type 5

Definition

Term Hierarchy

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

Consumer resources

Reviews

Related information

Recent activity