Spinocerebellar ataxia with axonal neuropathy type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SCAN 2 SCAR1 AOA2 Ataxia - oculomotor apraxia type 2 |
| Number of Symptoms | 36 |
| OrphanetNr: | 64753 |
| OMIM Id: |
606002
615217 |
| ICD-10: |
G60.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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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 cerebellar ataxia due to a DNA repair defect
-Rare eye disease -Rare genetic disease -Rare neurologic disease Genetic peripheral neuropathy -Rare genetic disease -Rare neurologic disease Oculomotor apraxia or related oculomotor disease -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000524) | Conjunctival telangiectasia | rare [HPO:skoehler] | 17 / 7739 | |||
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(HPO:0000486) | Strabismus | 30% [HPO] | 576 / 7739 | |||
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(HPO:0001152) | Saccadic smooth pursuit | 6 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 8/10 [HPO] | 555 / 7739 | |||
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(HPO:0000640) | Gaze-evoked nystagmus | 27 / 7739 | ||||
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(HPO:0000657) | Oculomotor apraxia | 2/10 [HPO] | 54 / 7739 | |||
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(HPO:0002070) | Limb ataxia | 41 / 7739 | ||||
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(HPO:0007240) | Progressive gait ataxia | 7 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 10/10 [HPO] | 301 / 7739 | |||
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(HPO:0003431) | Decreased motor nerve conduction velocity | 51 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | 10/10 [HPO] | 327 / 7739 | |||
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(HPO:0007256) | Abnormal pyramidal signs | 116 / 7739 | ||||
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(HPO:0001284) | Areflexia | 10/10 [HPO] | 198 / 7739 | |||
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(HPO:0002072) | Chorea | 4/18 [HPO] | 53 / 7739 | |||
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(HPO:0002346) | Head tremor | 2/18 [HPO] | 9 / 7739 | |||
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(HPO:0003477) | Peripheral axonal neuropathy | 8/8 [HPO] | 62 / 7739 | |||
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(HPO:0001260) | Dysarthria | 10/10 [HPO] | 329 / 7739 | |||
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(HPO:0001332) | Dystonia | 5/18 [HPO] | 197 / 7739 | |||
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(HPO:0001337) | Tremor | 57% [HPO] | 200 / 7739 | |||
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(HPO:0001265) | Hyporeflexia | 4/18 [HPO] | 208 / 7739 | |||
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(HPO:0006937) | Impaired distal tactile sensation | 57% [HPO] | 3 / 7739 | |||
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(HPO:0010831) | Impaired proprioception | 10/10 [HPO] | 7 / 7739 | |||
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(HPO:0001271) | Polyneuropathy | 56 / 7739 | ||||
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(HPO:0006886) | Impaired distal vibration sensation | 8 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 7/18 [HPO] | 705 / 7739 | |||
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(HPO:0001761) | Pes cavus | 12/18 [HPO] | 225 / 7739 | |||
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(HPO:0010702) | Increased antibody level in blood | 29 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0006254) | Elevated alpha-fetoprotein | 6/6 [HPO] | 10 / 7739 | |||
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(HPO:0003693) | Distal amyotrophy | 10/10 [HPO] | 118 / 7739 | |||
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(HPO:0002460) | Distal muscle weakness | 10/10 [HPO] | 122 / 7739 | |||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0006879) | Pontocerebellar atrophy | 6 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 8/8 [HPO] | 197 / 7739 | |||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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