Spinocerebellar ataxia type 19/22

General Information (adopted from Orphanet):

Synonyms, Signs: SPINOCEREBELLAR ATAXIA 22
SCA19/22
SCA19
SCA22
Number of Symptoms 24
OrphanetNr: 98772
OMIM Id: 607346
ICD-10: G11
UMLs: C1846367
MeSH: C537198
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 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:0007944) Intermittent microsaccadic pursuits 1 / 7739
2
 (HPO:0007979) Gaze-evoked horizontal nystagmus 5 / 7739
3
 (HPO:0002015) Dysphagia 301 / 7739
4
 (HPO:0002066) Gait ataxia 327 / 7739
5
 (HPO:0002078) Truncal ataxia 41 / 7739
6
 (HPO:0001260) Dysarthria 329 / 7739
7
 (HPO:0002174) Postural tremor 22 / 7739
8
 (HPO:0002073) Progressive cerebellar ataxia 27 / 7739
9
 (HPO:0002267) Exaggerated startle response 42 / 7739
10
 (HPO:0001336) Myoclonus 115 / 7739
11
 (HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
12
 (HPO:0001251) Ataxia 413 / 7739
13
 (HPO:0100543) Cognitive impairment Occasional [HPO:probinson] 230 / 7739
14
 (HPO:0002169) Clonus 37 / 7739
15
 (HPO:0002396) Cogwheel rigidity rare [HPO:skoehler] 6 / 7739
16
 (HPO:0001265) Hyporeflexia 208 / 7739
17
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
18
 (HPO:0002070) Limb ataxia 41 / 7739
19
 (OMIM) Postural tremor, slow, irregular (in some patients) 1 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
 (HPO:0003677) Slow progression 134 / 7739
22
 (HPO:0001272) Cerebellar atrophy 197 / 7739
23
 (OMIM) Impaired vibration sense at the ankles (in some patients) 1 / 7739
24
 (OMIM) Saccadic pursuit 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schelhaas et al. (2001) reported a 4-generation Dutch family with a distinct form of autosomal dominant cerebellar ataxia (ADCA) type I. Affected members showed a relatively mild ataxia syndrome with cognitive impairment, poor performance on the Wisconsin Card ...
Molecular genetics OMIM In affected members of a Han Chinese family with SCA, originally reported by Chung et al. (2003), Lee et al. (2012) identified a heterozygous 3-bp deletion in the KCND3 gene (605411.0001). The same heterozygous deletion was found in ...