Autosomal recessive spastic ataxia - optic atrophy - dysarthria

General Information (adopted from Orphanet):

Synonyms, Signs: SPAX4
Autosomal recessive spastic ataxia type 4
Number of Symptoms 22
OrphanetNr: 254343
OMIM Id: 613672
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive spastic ataxia
 -Rare genetic disease
 -Rare neurologic disease
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0000648) Optic atrophy 238 / 7739
3
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
4
 (HPO:0002313) Spastic paraparesis 33 / 7739
5
 (HPO:0003487) Babinski sign 179 / 7739
6
 (HPO:0002200) Pseudobulbar signs 15 / 7739
7
 (HPO:0002497) Spastic ataxia 13 / 7739
8
 (HPO:0000712) Emotional lability rare [HPO:skoehler] 44 / 7739
9
 (HPO:0001260) Dysarthria 329 / 7739
10
 (HPO:0001265) Hyporeflexia 208 / 7739
11
 (HPO:0001284) Areflexia 198 / 7739
12
 (HPO:0000750) Delayed speech and language development 197 / 7739
13
 (HPO:0001328) Specific learning disability 114 / 7739
14
 (HPO:0003677) Slow progression 134 / 7739
15
 (OMIM) Poor oromandibular coordination 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Delayed walking 13 / 7739
18
 (OMIM) Brisk jaw jerk 1 / 7739
19
 (OMIM) Slow, spastic tongue movements 1 / 7739
20
 (OMIM) Cerebellar ataxia, limb and trunk 1 / 7739
21
 (OMIM) Increased tone in the upper limbs (occur later) 1 / 7739
22
 (OMIM) Hyperreflexia of the lower limbs 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Crosby et al. (2010) reported a large consanguineous family of Old Order Amish origin in which 7 individuals had early childhood onset of a slowly progressive neurodegenerative disorder characterized primarily by cerebellar ataxia, spastic paraparesis, dysarthria, and optic ...
Molecular genetics OMIM By candidate gene sequencing of a region on chromosome 10p11.23, Crosby et al. (2010) identified a homozygous mutation in the MTPAP gene (N478D; 613669.0001) in 6 affected members of a large consanguineous family of Old Order Amish origin ...