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Autosomal recessive cerebellar ataxia-blindness-deafness syndrome(SCABD; SCAR3)

MedGen UID:
338611
•Concept ID:
C1849094
•
Disease or Syndrome
Synonyms: Spinocerebellar ataxia autosomal recessive 3; Spinocerebellar ataxia with blindness and deafness
SNOMED CT: SCAR3 - spinocerebellar ataxia autosomal recessive type 3 (1204415006); Autosomal recessive spinocerebellar ataxia type 3 (1204415006); Autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome (1204415006); Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (1204415006)
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:0010061
OMIM®: 271250
Orphanet: ORPHA95433

Definition

A rare autosomal recessive syndromic cerebellar ataxia with the association of early-onset cerebellar ataxia, hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. [from SNOMEDCT_US]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Cochlear degeneration
MedGen UID:
338612
•Concept ID:
C1849095
•
Finding
Deterioration or loss of the tissues of the cochlea.
See: Feature record | Search on this feature
Cerebellar ataxia
MedGen UID:
849
•Concept ID:
C0007758
•
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
See: Feature record | Search on this feature
Blindness
MedGen UID:
99138
•Concept ID:
C0456909
•
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive cerebellar ataxia-blindness-deafness syndrome
Follow this link to review classifications for Autosomal recessive cerebellar ataxia-blindness-deafness syndrome in Orphanet.

Professional guidelines

PubMed

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Recent clinical studies

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Congenital muscular dystrophies: 1997 update.
Voit T
Brain Dev 1998 Mar;20(2):65-74. doi: 10.1016/s0387-7604(97)00094-6. PMID: 9545174

Diagnosis

Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
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Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
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Therapy

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Carbohydrate-deficient glycoprotein syndromes.
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Prognosis

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Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
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Microlissencephaly.
Sztriha L, Al-Gazali L, Várady E, Nork M, Varughese M
Pediatr Neurol 1998 Apr;18(4):362-5. doi: 10.1016/s0887-8994(97)00213-0. PMID: 9588537

Clinical prediction guides

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium, Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A
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Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG
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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
The cytogenetics of ataxia telangiectasia.
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Recent systematic reviews

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