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Profound static encephalopathy

MedGen UID:
870497
Concept ID:
C4024944
Disease or Syndrome
HPO: HP:0007069

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Profound static encephalopathy

Conditions with this feature

Pachygyria-intellectual disability-epilepsy syndrome
MedGen UID:
333107
Concept ID:
C1838491
Disease or Syndrome
This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, impaired intellectual development, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007).
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
MedGen UID:
907651
Concept ID:
C4225203
Disease or Syndrome
UNC80 deficiency is characterized by hypotonia, strabismus, oral motor dysfunction, postnatal growth deficiency, and developmental delay. The majority of individuals do not learn to walk. All individuals lack expressive language; however, many have expressive body language, and a few have used signs to communicate. Seizures may develop during infancy or childhood. Additional features can include nystagmus, extremity hypertonia, a high-pitched cry, repetitive and self-stimulatory behaviors, constipation, clubfeet, joint contractures, and scoliosis. For most individuals the UNC80 deficiency syndrome is not progressive. Individuals have slow acquisition of skills and do not have a loss of skills suggestive of neurodegeneration.

Professional guidelines

PubMed

Ossenkoppele R, van der Flier WM, Zwan MD, Adriaanse SF, Boellaard R, Windhorst AD, Barkhof F, Lammertsma AA, Scheltens P, van Berckel BN
Neurology 2013 Jan 22;80(4):359-65. Epub 2012 Dec 19 doi: 10.1212/WNL.0b013e31827f0889. PMID: 23255822
Goldman SA
Arch Neurol 2011 Jul;68(7):848-56. Epub 2011 Mar 14 doi: 10.1001/archneurol.2011.46. PMID: 21403006Free PMC Article

Recent clinical studies

Etiology

Mondal NK, Li S, Elsenousi AE, Mattar A, Nordick KV, Lamba HK, Hochman-Mendez C, Rosengart TK, Liao KK
Am J Physiol Heart Circ Physiol 2024 Mar 1;326(3):H548-H562. Epub 2024 Jan 5 doi: 10.1152/ajpheart.00616.2023. PMID: 38180451
Goldstein DS, Isonaka R, Holmes C, Ding YS, Sharabi Y
Ann Clin Transl Neurol 2020 Oct;7(10):1908-1918. Epub 2020 Sep 10 doi: 10.1002/acn3.51184. PMID: 32945121Free PMC Article
Hernández-Pérez M, Puig J, Blasco G, Pérez de la Ossa N, Dorado L, Dávalos A, Munuera J
Stroke 2016 Feb;47(2):531-4. Epub 2015 Dec 10 doi: 10.1161/STROKEAHA.115.010748. PMID: 26658445
Purnell SM, Bleyl SB, Bonkowsky JL
Pediatr Neurol 2014 Jun;50(6):608-11. Epub 2014 Feb 10 doi: 10.1016/j.pediatrneurol.2014.01.051. PMID: 24742798Free PMC Article
De Bruin VS, Machado C, Howard RS, Hirsch NP, Lees AJ
Postgrad Med J 1996 May;72(847):293-6. doi: 10.1136/pgmj.72.847.293. PMID: 8761503Free PMC Article

Diagnosis

Goldstein DS, Isonaka R, Holmes C, Ding YS, Sharabi Y
Ann Clin Transl Neurol 2020 Oct;7(10):1908-1918. Epub 2020 Sep 10 doi: 10.1002/acn3.51184. PMID: 32945121Free PMC Article
Shamseldin HE, Makhseed N, Ibrahim N, Al-Sheddi T, Alobeid E, Abdulwahab F, Alkuraya FS
Hum Genet 2019 Mar;138(3):221-229. Epub 2019 Feb 13 doi: 10.1007/s00439-019-01979-w. PMID: 30758658
Hernández-Pérez M, Puig J, Blasco G, Pérez de la Ossa N, Dorado L, Dávalos A, Munuera J
Stroke 2016 Feb;47(2):531-4. Epub 2015 Dec 10 doi: 10.1161/STROKEAHA.115.010748. PMID: 26658445
de Roode CP, James MA, Van Heest AE
Tech Hand Up Extrem Surg 2010 Jun;14(2):129-34. doi: 10.1097/BTH.0b013e3181e3d785. PMID: 20526169
Stiasny-Kolster K, Magerl W, Oertel WH, Möller JC, Treede RD
Brain 2004 Apr;127(Pt 4):773-82. Epub 2004 Feb 25 doi: 10.1093/brain/awh079. PMID: 14985260

Therapy

de Roode CP, James MA, Van Heest AE
Tech Hand Up Extrem Surg 2010 Jun;14(2):129-34. doi: 10.1097/BTH.0b013e3181e3d785. PMID: 20526169
Stiasny-Kolster K, Magerl W, Oertel WH, Möller JC, Treede RD
Brain 2004 Apr;127(Pt 4):773-82. Epub 2004 Feb 25 doi: 10.1093/brain/awh079. PMID: 14985260

Prognosis

Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L
Mol Genet Metab 2014 Sep-Oct;113(1-2):76-83. Epub 2014 Jul 21 doi: 10.1016/j.ymgme.2014.07.017. PMID: 25087164

Clinical prediction guides

Mondal NK, Li S, Elsenousi AE, Mattar A, Nordick KV, Lamba HK, Hochman-Mendez C, Rosengart TK, Liao KK
Am J Physiol Heart Circ Physiol 2024 Mar 1;326(3):H548-H562. Epub 2024 Jan 5 doi: 10.1152/ajpheart.00616.2023. PMID: 38180451

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