U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spinocerebellar ataxia-dysmorphism syndrome

MedGen UID:
336495
•Concept ID:
C1849088
•
Disease or Syndrome
Synonym: Spinocerebellar ataxia with dysmorphism
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:0010062
OMIM®: 271270
Orphanet: ORPHA1185

Definition

A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia-dysmorphism syndrome
Follow this link to review classifications for Spinocerebellar ataxia-dysmorphism syndrome in Orphanet.

Professional guidelines

PubMed

A study on non-invasive prenatal screening for the detection of aneuploidy.
Chen Y, Yang F, Shang X, Liu S, Li M, Zhong M
Ginekol Pol 2022;93(9):716-720. Epub 2022 Mar 22 doi: 10.5603/GP.a2021.0254. PMID: 35315016
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P
Eur J Paediatr Neurol 2021 Jul;33:75-85. Epub 2021 May 26 doi: 10.1016/j.ejpn.2021.05.010. PMID: 34102571
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925

Recent clinical studies

Etiology

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. PMID: 37165652
Hereditary Myelopathies.
Walker MA
Semin Neurol 2021 Jun;41(3):303-308. Epub 2021 Mar 4 doi: 10.1055/s-0041-1725153. PMID: 33663004
Induced Pluripotent Stem Cell (iPSC)-Based Neurodegenerative Disease Models for Phenotype Recapitulation and Drug Screening.
Chang CY, Ting HC, Liu CA, Su HL, Chiou TW, Lin SZ, Harn HJ, Ho TJ
Molecules 2020 Apr 24;25(8) doi: 10.3390/molecules25082000. PMID: 32344649Free PMC Article
Repeat expansion diseases.
Paulson H
Handb Clin Neurol 2018;147:105-123. doi: 10.1016/B978-0-444-63233-3.00009-9. PMID: 29325606Free PMC Article
Spinocerebellar degenerations.
Perlman SL
Handb Clin Neurol 2011;100:113-40. doi: 10.1016/B978-0-444-52014-2.00006-9. PMID: 21496573

Diagnosis

The inherited cerebellar ataxias: an update.
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
The complexities of CACNA1A in clinical neurogenetics.
Hommersom MP, van Prooije TH, Pennings M, Schouten MI, van Bokhoven H, Kamsteeg EJ, van de Warrenburg BPC
J Neurol 2022 Jun;269(6):3094-3108. Epub 2021 Nov 22 doi: 10.1007/s00415-021-10897-9. PMID: 34806130
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP
Cerebellum 2022 Dec;21(6):1073-1084. Epub 2021 Nov 15 doi: 10.1007/s12311-021-01345-5. PMID: 34782953
Nutritional neuropathies.
Gwathmey KG, Grogan J
Muscle Nerve 2020 Jul;62(1):13-29. Epub 2019 Dec 26 doi: 10.1002/mus.26783. PMID: 31837157
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925

Therapy

The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias.
Benussi A, Batsikadze G, França C, Cury RG, Maas RPPWM
Cells 2023 Apr 20;12(8) doi: 10.3390/cells12081193. PMID: 37190102Free PMC Article
Nutritional neuropathies.
Gwathmey KG, Grogan J
Muscle Nerve 2020 Jul;62(1):13-29. Epub 2019 Dec 26 doi: 10.1002/mus.26783. PMID: 31837157
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Clinical Features of Machado-Joseph Disease.
Mendonça N, França MC Jr, Gonçalves AF, Januário C
Adv Exp Med Biol 2018;1049:255-273. doi: 10.1007/978-3-319-71779-1_13. PMID: 29427108
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587

Prognosis

Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L
J Neurol Sci 2023 Jan 15;444:120527. Epub 2022 Dec 16 doi: 10.1016/j.jns.2022.120527. PMID: 36563608
The inherited cerebellar ataxias: an update.
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
The neuropathology of the adult cerebellum.
Koeppen AH
Handb Clin Neurol 2018;154:129-149. doi: 10.1016/B978-0-444-63956-1.00008-4. PMID: 29903436Free PMC Article
Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM
Mov Disord 2017 May;32(5):708-718. Epub 2017 Mar 3 doi: 10.1002/mds.26969. PMID: 28256108
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. PMID: 37165652
The inherited cerebellar ataxias: an update.
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
Motor neuron pathology in CANVAS due to RFC1 expansions.
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
Parkinsonian syndromes: A review.
Srivanitchapoom P, Pitakpatapee Y, Suengtaworn A
Neurol India 2018 Mar-Apr;66(Supplement):S15-S25. doi: 10.4103/0028-3886.226459. PMID: 29503324
Symptomatic myoclonus.
Borg M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):309-18. Epub 2007 Jan 17 doi: 10.1016/j.neucli.2006.12.006. PMID: 17336775

Recent systematic reviews

Accidental Falls in Patients with Hyperkinetic Movement Disorders: A Systematic Review.
Homann CN, Homann B, Ivanic G, Urbanic-Purkart T
Tremor Other Hyperkinet Mov (N Y) 2022;12:30. Epub 2022 Oct 7 doi: 10.5334/tohm.709. PMID: 36303814Free PMC Article
Neurocognitive Changes in Spinocerebellar Ataxia Type 3: A Systematic Review with a Narrative Design.
Yap KH, Kessels RPC, Azmin S, van de Warrenburg B, Mohamed Ibrahim N
Cerebellum 2022 Apr;21(2):314-327. Epub 2021 Jul 7 doi: 10.1007/s12311-021-01282-3. PMID: 34231180
Gastrointestinal disorders in hyperkinetic movement disorders and ataxia.
Pradeep S, Mehanna R
Parkinsonism Relat Disord 2021 Sep;90:125-133. Epub 2021 Sep 14 doi: 10.1016/j.parkreldis.2021.09.005. PMID: 34544654
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587
Evaluating the affective component of the cerebellar cognitive affective syndrome.
Wolf U, Rapoport MJ, Schweizer TA
J Neuropsychiatry Clin Neurosci 2009 Summer;21(3):245-53. doi: 10.1176/jnp.2009.21.3.245. PMID: 19776302

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.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      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...