Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SCAR13
Number of Symptoms 32
OrphanetNr: 363429
OMIM Id: 614831
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive metabolic cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Disorder of amino acid absorption and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000565) Esotropia 58 / 7739
2
 (HPO:0000571) Hypometric saccades 10 / 7739
3
 (HPO:0000666) Horizontal nystagmus 32 / 7739
4
 (HPO:0001488) Bilateral ptosis 42 / 7739
5
 (HPO:0000508) Ptosis 459 / 7739
6
 (HPO:0000486) Strabismus 576 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0001310) Dysmetria 76 / 7739
9
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
10
 (HPO:0001260) Dysarthria 329 / 7739
11
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0001347) Hyperreflexia 363 / 7739
14
 (HPO:0001763) Pes planus 176 / 7739
15
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
16
 (HPO:0004322) Short stature 1232 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739
18
 (HPO:0001324) Muscle weakness 859 / 7739
19
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
20
 (HPO:0010547) Muscle flaccidity 466 / 7739
21
 (OMIM) Never learn to walk (some patients) 2 / 7739
22
 (HPO:0006951) Retrocerebellar cyst 6 / 7739
23
 (HPO:0002119) Ventriculomegaly 253 / 7739
24
 (OMIM) Lack of speech development 20 / 7739
25
 (OMIM) Mental retardation, mild to profound 3 / 7739
26
 (OMIM) Cerebellar ataxia, gait and stance 2 / 7739
27
 (OMIM) Mild pyramidal signs (variable expression) 4 / 7739
28
 (OMIM) Tremor, mild 3 / 7739
29
 (OMIM) Small brain size (some patients) 2 / 7739
30
 (OMIM) Abduction deficits (about half of patients) 2 / 7739
31
 (HPO:0001272) Cerebellar atrophy 197 / 7739
32
 (HPO:0007068) Inferior vermis hypoplasia 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive spinocerebellar ataxia-13 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia ...
Clinical Description OMIM Guergueltcheva et al. (2012) reported 10 patients from 5 families with spinocerebellar ataxia. All families belonged to the Roma Bowlmaker ethnic group in Bulgaria, a young Gypsy population subisolate with low genetic diversity. The patients ranged in age ...
Molecular genetics OMIM In 10 affected individuals from 5 Bulgarian families of Roma Bowlmaker Gypsy origin with autosomal recessive spinocerebellar ataxia, Guergueltcheva et al. (2012) identified a homozygous mutation in the GRM1 gene (604473.0001) that generated various aberrant transcripts lacking important ...