Spinocerebellar ataxia with epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: SCAE, INCLUDED
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED
SANDO
SCAE
MSCAE
Mitochondrial spinocerebellar ataxia with epilepsy
Number of Symptoms 59
OrphanetNr: 254881
OMIM Id: 607459
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Ataxia neuropathy spectrum
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000590) Progressive external ophthalmoplegia 23 / 7739
2
 (HPO:0000518) Cataract Rare [HPO] 454 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0000508) Ptosis 459 / 7739
5
 (HPO:0010697) Anterior pyramidal cataract 22 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
7
 (HPO:0001751) Vestibular dysfunction 19 / 7739
8
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
9
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
10
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
11
 (HPO:0003434) Sensory ataxic neuropathy 4 / 7739
12
 (HPO:0002076) Migraine 41 / 7739
13
 (HPO:0100543) Cognitive impairment 230 / 7739
14
 (HPO:0002169) Clonus 37 / 7739
15
 (HPO:0006886) Impaired distal vibration sensation 8 / 7739
16
 (HPO:0006858) Impaired distal proprioception 4 / 7739
17
 (HPO:0001260) Dysarthria 329 / 7739
18
 (HPO:0001250) Seizures 1245 / 7739
19
 (HPO:0007240) Progressive gait ataxia 7 / 7739
20
 (HPO:0001284) Areflexia 198 / 7739
21
 (HPO:0003390) Sensory axonal neuropathy 26 / 7739
22
 (HPO:0001265) Hyporeflexia 208 / 7739
23
 (HPO:0002403) Positive Romberg sign 11 / 7739
24
 (HPO:0000716) Depression 99 / 7739
25
 (HPO:0001336) Myoclonus 115 / 7739
26
 (HPO:0004389) Intestinal pseudo-obstruction 7 / 7739
27
 (HPO:0002578) Gastroparesis 11 / 7739
28
 (HPO:0100771) Hypoperistalsis 5 / 7739
29
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
30
 (HPO:0002151) Increased serum lactate 92 / 7739
31
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
32
 (HPO:0003713) Muscle fiber necrosis 8 / 7739
33
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 20 / 7739
34
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
35
 (HPO:0003548) Subsarcolemmal accumulations of abnormally shaped mitochondria 9 / 7739
36
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
37
 (HPO:0003689) Multiple mitochondrial DNA deletions 12 / 7739
38
 (HPO:0003701) Proximal muscle weakness 105 / 7739
39
 (HPO:0007344) Atrophy/Degeneration involving the spinal cord 2 / 7739
40
 (OMIM) Necrotic and atrophic fibers with centralized nuclei 2 / 7739
41
 (OMIM) Subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy 3 / 7739
42
 (OMIM) Bilateral thalamic lesions on MRI 2 / 7739
43
 (HPO:0003581) Adult onset 117 / 7739
44
 (OMIM) Ataxia worsens in the dark 2 / 7739
45
 (OMIM) Upward gaze paresis 2 / 7739
46
 (OMIM) Sural nerve biopsy shows loss of large and small myelinated axons 2 / 7739
47
 (OMIM) [DEL]Ragged red fibers seen on muscle biopsy 10 / 7739
48
 (OMIM) Distal sensory impairment to vibration and proprioception 2 / 7739
49
 (OMIM) Ophthalmoparesis, progressive, external 2 / 7739
50
 (OMIM) Lack of concentration 2 / 7739
51
 (OMIM) Cognitive impairment, mild 15 / 7739
52
 (HPO:0003812) Phenotypic variability 129 / 7739
53
 (OMIM) Decreased activity of cytochrome c oxidase 3 / 7739
54
 (OMIM) Cerebellar white matter lesions on MRI 2 / 7739
55
 (OMIM) Memory difficulties 2 / 7739
56
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
57
 (OMIM) Mildly increased serum lactate 3 / 7739
58
 (OMIM) Mild proximal muscle weakness (<10% of patients) 5 / 7739
59
 (OMIM) Withdrawal 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) resulting from mitochondrial dysfunction and associated with mtDNA depletion in skeletal muscle and peripheral nerve tissue (Fadic et ...
Clinical Description OMIM Fadic et al. (1997) reported 4 unrelated patients with adult onset of severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Patients had ataxic gait, loss of distal proprioception and vibration, areflexia in the ...
Molecular genetics OMIM In a patient with SANDO, Van Goethem et al. (2003) identified compound heterozygosity for 2 mutations in the POLG gene (174763.0002; 174763.0005). The finding indicated that SANDO is a variant of autosomal recessive PEO.

In 3 ...