Spinocerebellar ataxia type 13

General Information (adopted from Orphanet):

Synonyms, Signs: SCA13
Number of Symptoms 19
OrphanetNr: 98768
OMIM Id: 605259
ICD-10: G11
UMLs: C1854488
MeSH: C537195
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 1
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000639) Nystagmus 555 / 7739
2
(HPO:0001347) Hyperreflexia 363 / 7739
3
(HPO:0002070) Limb ataxia 41 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0002073) Progressive cerebellar ataxia 27 / 7739
6
(HPO:0002406) Limb dysmetria 5 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
9
(HPO:0001260) Dysarthria 329 / 7739
10
(HPO:0002066) Gait ataxia 327 / 7739
11
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
(HPO:0010547) Muscle flaccidity 466 / 7739
13
(HPO:0001252) Muscular hypotonia 990 / 7739
14
(HPO:0001324) Muscle weakness 859 / 7739
15
(HPO:0001272) Cerebellar atrophy 197 / 7739
16
(OMIM) Inability to run 3 / 7739
17
(HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
18
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Herman-Bert et al. (2000) described a large French family in which 8 members were affected with autosomal dominant spinocerebellar ataxia. There were 7 affected women and an affected 4-year-old boy. Clinical features included slowly progressive childhood-onset cerebellar gait ...
Molecular genetics OMIM In affected members of a French family and a Filipino family with SCA13, Waters et al. (2006) identified 2 different heterozygous mutations in the KCNC3 gene (176264.0001; 176264.0002).
Diagnosis GeneReviews The phenotype of spinocerebellar ataxia type 13 (SCA13) overlaps with that of other infantile or adult-onset ataxias. The correct diagnosis can only be established by molecular genetic testing of KCNC3. ...
Clinical Description GeneReviews In the families described to date, the spinocerebellar ataxia type 13 (SCA13) phenotype has ranged from early-onset ataxia with little progression, often accompanied by mild intellectual disability and occasional seizures [Herman-Bert et al 2000, Figueroa et al 2011], to adult-onset progressive ataxia [Waters et al 2005, Waters & Pulst 2008, Figueroa et al 2010]. Onset has ranged from infancy to 60 years....
Genotype-Phenotype Correlations GeneReviews The known mutations in KCNC3 are associated with different phenotypes; however, data are too limited to make any genotype-phenotype correlations at this time....
Differential Diagnosis GeneReviews Persons with spinocerebellar ataxia type 13 (SCA13) may present with ataxia that is indistinguishable from other adult-onset inherited or acquired ataxias (see Ataxia Overview). ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with spinocerebellar ataxia type 13 (SCA13), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....