Sensory ataxic neuropathy-dysarthria-ophthalmoparesis

General Information (adopted from Orphanet):

Synonyms, Signs: SCAE, INCLUDED
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED
SANDO
Number of Symptoms 46
OrphanetNr: 70595
OMIM Id: 607459
ICD-10: G71.3
UMLs: C1843851
MeSH: C537583
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Ataxia neuropathy spectrum
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Mitochondrial disease with epilepsy
 -Rare neurologic disease
Mitochondrial disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Mitochondrial myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

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