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Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

MedGen UID:
1798874
•Concept ID:
C5567451
•
Disease or Syndrome
Synonyms: Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome; early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
SNOMED CT: Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (1172588008)
 
Monarch Initiative: MONDO:0044651
Orphanet: ORPHA496756

Definition

A rare genetic neurodegenerative disease with characteristics of neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEarly-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Recent clinical studies

Etiology

A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
Conti R, Zanchi C, Barbi E
Ital J Pediatr 2021 Feb 12;47(1):28. doi: 10.1186/s13052-021-00984-y. PMID: 33579342Free PMC Article
Impact of growth friendly interventions on spine and pulmonary outcomes of patients with spinal muscular atrophy.
Swarup I, MacAlpine EM, Mayer OH, Lark RK, Smith JT, Vitale MG, Flynn JM, Anari JB; Pediatric Spine Study Group, Cahill PJ
Eur Spine J 2021 Mar;30(3):768-774. Epub 2020 Aug 18 doi: 10.1007/s00586-020-06564-8. PMID: 32809150
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C
Neuromuscul Disord 2019 Feb;29(2):114-126. Epub 2018 Oct 31 doi: 10.1016/j.nmd.2018.10.002. PMID: 30598237
Clinical patterns in progressive muscular atrophy (PMA): a prospective study.
de Carvalho M, Scotto M, Swash M
Amyotroph Lateral Scler 2007 Oct;8(5):296-9. doi: 10.1080/17482960701452902. PMID: 17852011
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958

Diagnosis

A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
Conti R, Zanchi C, Barbi E
Ital J Pediatr 2021 Feb 12;47(1):28. doi: 10.1186/s13052-021-00984-y. PMID: 33579342Free PMC Article
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C
Neuromuscul Disord 2019 Feb;29(2):114-126. Epub 2018 Oct 31 doi: 10.1016/j.nmd.2018.10.002. PMID: 30598237
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B
Eur J Hum Genet 2017 Sep;25(9):1040-1048. Epub 2017 Jun 21 doi: 10.1038/ejhg.2017.98. PMID: 28635954Free PMC Article
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.
Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R
Brain 2003 Dec;126(Pt 12):2682-92. Epub 2003 Sep 23 doi: 10.1093/brain/awg278. PMID: 14506069
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958

Prognosis

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.
Pacheva I, Todorov T, Halil Z, Yordanova R, Todorova A, Geneva I, Galabova F, Ivanov I
Am J Med Genet A 2019 Jun;179(6):1020-1024. Epub 2019 Mar 13 doi: 10.1002/ajmg.a.61110. PMID: 30868738
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C
Neuromuscul Disord 2019 Feb;29(2):114-126. Epub 2018 Oct 31 doi: 10.1016/j.nmd.2018.10.002. PMID: 30598237
Clinical patterns in progressive muscular atrophy (PMA): a prospective study.
de Carvalho M, Scotto M, Swash M
Amyotroph Lateral Scler 2007 Oct;8(5):296-9. doi: 10.1080/17482960701452902. PMID: 17852011
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958
Permanently locked-in syndrome in the neurologically impaired neonate: report of a case of Werdnig-Hoffmann disease.
Echenberg RJ
J Clin Ethics 1992 Fall;3(3):206-8. PMID: 1392039

Clinical prediction guides

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C
Neuromuscul Disord 2019 Feb;29(2):114-126. Epub 2018 Oct 31 doi: 10.1016/j.nmd.2018.10.002. PMID: 30598237
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG
Am J Hum Genet 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011. PMID: 29727687Free PMC Article
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E
Am J Hum Genet 2016 Oct 6;99(4):974-983. Epub 2016 Sep 22 doi: 10.1016/j.ajhg.2016.08.006. PMID: 27666369Free PMC Article
Clinical patterns in progressive muscular atrophy (PMA): a prospective study.
de Carvalho M, Scotto M, Swash M
Amyotroph Lateral Scler 2007 Oct;8(5):296-9. doi: 10.1080/17482960701452902. PMID: 17852011

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