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Spinocerebellar ataxia type 13(SCA13)

MedGen UID:
344297
Concept ID:
C1854488
Disease or Syndrome
Synonyms: Cerebellar ataxia, autosomal dominant with mental retardation; SCA13; Spinocerebellar Ataxia Type13
SNOMED CT: Spinocerebellar ataxia type 13 (719209002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KCNC3 (19q13.33)
 
Monarch Initiative: MONDO:0011529
OMIM®: 605259
Orphanet: ORPHA98768

Definition

Spinocerebellar ataxia type 13 (SCA13) is a phenotypic spectrum that includes both non-progressive infantile-onset ataxia and progressive childhood-onset and adult-onset cerebellar ataxia. Three phenotypes are seen: Cerebellar hypoplasia with non-progressive infantile-onset limb, truncal, and gait ataxia with mild-to-moderate intellectual disability and occasionally seizures and/or psychiatric manifestations. Cognition and motor skills improve over time. Childhood-onset slowly progressive cerebellar atrophy with slowly progressive cerebellar ataxia and dysarthria, delayed motor milestones, and mild-to-moderate intellectual disability. Adult-onset progressive cerebellar atrophy with progressive ataxia and spasticity. [from GeneReviews]

Additional description

From OMIM
Spinocerebellar ataxia-13 (SCA13) is an autosomal dominant disorder characterized by slowly progressive gait and limb ataxia and dysarthria. Age at onset ranges from childhood to adulthood. Other features, including intellectual impairment, oculomotor disturbances, and pyramidal signs, are variable (Herman-Bert et al., 2000; Subramony et al., 2013). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).  http://www.omim.org/entry/605259

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Impaired distal vibration sensation
MedGen UID:
381262
Concept ID:
C1853767
Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Limb dysmetria
MedGen UID:
340244
Concept ID:
C1854489
Finding
A type of dysmetria involving the limbs.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Abnormal pyramidal tract morphology
MedGen UID:
892809
Concept ID:
C4021761
Anatomical Abnormality
Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Jerky ocular pursuit movements
MedGen UID:
342908
Concept ID:
C1853558
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 13
Follow this link to review classifications for Spinocerebellar ataxia type 13 in Orphanet.

Professional guidelines

PubMed

Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H
Mov Disord 2018 Jul;33(7):1119-1129. Epub 2018 Mar 30 doi: 10.1002/mds.27334. PMID: 29603387Free PMC Article
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;2014(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587Free PMC Article
Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J, Feil K, Kalla R, Miyai I, Nachbauer W, Schöls L, Strupp M, Synofzik M, Teufel J, Timmann D
Cerebellum 2014 Apr;13(2):248-68. doi: 10.1007/s12311-013-0531-6. PMID: 24222635Free PMC Article

Recent clinical studies

Etiology

Peng L, Wang C, Chen Z, Wang JL, Tang BS, Jiang H
Int J Neurosci 2013 Jul;123(7):450-3. Epub 2013 Feb 11 doi: 10.3109/00207454.2013.763254. PMID: 23293936

Diagnosis

Middlebrooks JC, Nick HS, Subramony SH, Advincula J, Rosales RL, Lee LV, Ashizawa T, Waters MF
PLoS One 2013;8(10):e76749. Epub 2013 Oct 7 doi: 10.1371/journal.pone.0076749. PMID: 24116147Free PMC Article
Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF
Cerebellum 2013 Dec;12(6):932-6. doi: 10.1007/s12311-013-0507-6. PMID: 23912307Free PMC Article
Peng L, Wang C, Chen Z, Wang JL, Tang BS, Jiang H
Int J Neurosci 2013 Jul;123(7):450-3. Epub 2013 Feb 11 doi: 10.3109/00207454.2013.763254. PMID: 23293936
Bürk K, Strzelczyk A, Reif PS, Figueroa KP, Pulst SM, Zühlke C, Oertel WH, Hamer HM, Rosenow F
Int J Neurosci 2013 Apr;123(4):278-82. Epub 2013 Jan 29 doi: 10.3109/00207454.2012.755180. PMID: 23215817
Waters MF, Subramony SH, Advincula J, Perlman S, Ashizawa T
Neurology 2012 Sep 11;79(11):1181-2. Epub 2012 Aug 29 doi: 10.1212/WNL.0b013e3182698d5c. PMID: 22933745Free PMC Article

Prognosis

Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS
PLoS One 2015;10(3):e0116599. Epub 2015 Mar 10 doi: 10.1371/journal.pone.0116599. PMID: 25756792Free PMC Article
Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF
Cerebellum 2013 Dec;12(6):932-6. doi: 10.1007/s12311-013-0507-6. PMID: 23912307Free PMC Article

Clinical prediction guides

Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS
PLoS One 2015;10(3):e0116599. Epub 2015 Mar 10 doi: 10.1371/journal.pone.0116599. PMID: 25756792Free PMC Article
Middlebrooks JC, Nick HS, Subramony SH, Advincula J, Rosales RL, Lee LV, Ashizawa T, Waters MF
PLoS One 2013;8(10):e76749. Epub 2013 Oct 7 doi: 10.1371/journal.pone.0076749. PMID: 24116147Free PMC Article

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