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Progressive myoclonic epilepsy with dystonia

MedGen UID:
1642042
•Concept ID:
C4706413
•
Disease or Syndrome
Synonyms: PMED; progressive myoclonic epilepsy with dystonia; Progressive myoclonus epilepsy with dystonia; progressive myoclonus epilepsy with dystonia
SNOMED CT: Progressive myoclonus epilepsy with dystonia (763349002); Progressive myoclonic epilepsy with dystonia (763349002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018126
Orphanet: ORPHA352596

Definition

A rare genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive myoclonic epilepsy with dystonia

Recent clinical studies

Etiology

Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.
Togashi N, Fujita A, Shibuya M, Uneoka S, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Jin K, Matsumoto N, Haginoya K
Brain Dev 2020 Oct;42(9):696-699. Epub 2020 Jul 9 doi: 10.1016/j.braindev.2020.06.011. PMID: 32654954
Epilepsy in Aicardi-Goutières syndrome.
Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA
Eur J Paediatr Neurol 2014 Jan;18(1):30-7. Epub 2013 Sep 5 doi: 10.1016/j.ejpn.2013.07.005. PMID: 24011626
Chapter 33: the history of movement disorders.
Lanska DJ
Handb Clin Neurol 2010;95:501-46. doi: 10.1016/S0072-9752(08)02133-7. PMID: 19892136
Movement disorders in hereditary ataxias.
Garcia Ruiz PJ, Mayo D, Hernandez J, Cantarero S, Ayuso C
J Neurol Sci 2002 Oct 15;202(1-2):59-64. doi: 10.1016/s0022-510x(02)00211-3. PMID: 12220693
Neurological mitochondrial cytopathies.
Mehndiratta MM, Agarwal P, Tatke M, Krishnamurthy M
Neurol India 2002 Jun;50(2):162-7. PMID: 12134180

Diagnosis

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
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G
Epilepsia 2023 Aug;64(8):e170-e176. Epub 2023 Jun 8 doi: 10.1111/epi.17634. PMID: 37114479
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Ferranti S, Lo Rizzo C, Renieri A, Galluzzi P, Grosso S
Neurol Sci 2020 Nov;41(11):3345-3348. Epub 2020 May 21 doi: 10.1007/s10072-020-04418-1. PMID: 32440981
Infantile epileptic syndromes and metabolic etiologies.
Vigevano F, Bartuli A
J Child Neurol 2002 Dec;17 Suppl 3:3S9-13; discussion 3S14. PMID: 12597051
Neurological mitochondrial cytopathies.
Mehndiratta MM, Agarwal P, Tatke M, Krishnamurthy M
Neurol India 2002 Jun;50(2):162-7. PMID: 12134180

Therapy

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.
Sadleir LG, Paterson S, Smith KR, Redshaw N, Ranta A, Kalnins R, Berkovic SF, Bahlo M, Hildebrand MS, Scheffer IE
Epilepsy Res 2015 Aug;114:98-105. Epub 2015 May 5 doi: 10.1016/j.eplepsyres.2015.04.014. PMID: 26088892
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status.
Berger A, Schroeter C, Wiemer-Kruel A, Strobl K, Hoffmann GF, Rating D, Lebon P, Ernst JP, Wolf NI
Epileptic Disord 2007 Jun;9(2):140-4. doi: 10.1684/epd.2007.0096. PMID: 17525022
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination.
Capablo JL, Franco R, de Cabezón AS, Alfonso P, Pocovi M, Giraldo P
Epilepsia 2007 Jul;48(7):1406-8. Epub 2007 Apr 13 doi: 10.1111/j.1528-1167.2007.01074.x. PMID: 17433057
Infantile epileptic syndromes and metabolic etiologies.
Vigevano F, Bartuli A
J Child Neurol 2002 Dec;17 Suppl 3:3S9-13; discussion 3S14. PMID: 12597051

Prognosis

Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.
Togashi N, Fujita A, Shibuya M, Uneoka S, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Jin K, Matsumoto N, Haginoya K
Brain Dev 2020 Oct;42(9):696-699. Epub 2020 Jul 9 doi: 10.1016/j.braindev.2020.06.011. PMID: 32654954
Epilepsy in Aicardi-Goutières syndrome.
Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA
Eur J Paediatr Neurol 2014 Jan;18(1):30-7. Epub 2013 Sep 5 doi: 10.1016/j.ejpn.2013.07.005. PMID: 24011626
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.
Duru N, Iseri SA, Selçuk N, Tolun A
J Neurogenet 2010 Dec;24(4):207-15. doi: 10.3109/01677063.2010.514368. PMID: 21087195
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status.
Berger A, Schroeter C, Wiemer-Kruel A, Strobl K, Hoffmann GF, Rating D, Lebon P, Ernst JP, Wolf NI
Epileptic Disord 2007 Jun;9(2):140-4. doi: 10.1684/epd.2007.0096. PMID: 17525022
Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions.
Munhoz RP, Bergeron C, Lang AE
Mov Disord 2004 May;19(5):580-3. doi: 10.1002/mds.10674. PMID: 15133824

Clinical prediction guides

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Ferranti S, Lo Rizzo C, Renieri A, Galluzzi P, Grosso S
Neurol Sci 2020 Nov;41(11):3345-3348. Epub 2020 May 21 doi: 10.1007/s10072-020-04418-1. PMID: 32440981
Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.
Sadleir LG, Paterson S, Smith KR, Redshaw N, Ranta A, Kalnins R, Berkovic SF, Bahlo M, Hildebrand MS, Scheffer IE
Epilepsy Res 2015 Aug;114:98-105. Epub 2015 May 5 doi: 10.1016/j.eplepsyres.2015.04.014. PMID: 26088892
Epilepsy in Aicardi-Goutières syndrome.
Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA
Eur J Paediatr Neurol 2014 Jan;18(1):30-7. Epub 2013 Sep 5 doi: 10.1016/j.ejpn.2013.07.005. PMID: 24011626
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.
Duru N, Iseri SA, Selçuk N, Tolun A
J Neurogenet 2010 Dec;24(4):207-15. doi: 10.3109/01677063.2010.514368. PMID: 21087195
Mitochondrial DNA mutations in diseases of energy metabolism.
Wallace DC
J Bioenerg Biomembr 1994 Jun;26(3):241-50. doi: 10.1007/BF00763096. PMID: 8077179

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
Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
Ji C, Zhao J, Zhang J, Wang K
Neurol Sci 2023 Oct;44(10):3495-3498. Epub 2023 May 30 doi: 10.1007/s10072-023-06851-4. PMID: 37249665
Transcranial magnetic stimulation in myoclonus of different aetiologies.
Nardone R, Versace V, Höller Y, Sebastianelli L, Brigo F, Lochner P, Golaszewski S, Saltuari L, Trinka E
Brain Res Bull 2018 Jun;140:258-269. Epub 2018 May 24 doi: 10.1016/j.brainresbull.2018.05.016. PMID: 29803873

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