Autosomal recessive ataxia due to ubiquinone deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
COQ10D4 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 ARCA2 SCAR9 Autosomal recessive spinocerebellar ataxia type 9 Autosomal recessive cerebellar ataxia type 2 Autosomal recessive ataxia due to coenzyme Q10 deficiency |
| Number of Symptoms | 29 |
| OrphanetNr: | 139485 |
| OMIM Id: |
612016
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| ICD-10: |
G11.1 |
| 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
-Rare eye disease -Rare genetic disease -Rare neurologic disease Coenzyme Q10 deficiency -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0007256) | Abnormal pyramidal signs | rare [HPO:skoehler] | 116 / 7739 | |||
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(HPO:0001250) | Seizures | variable [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0001337) | Tremor | rare [HPO:skoehler] | 200 / 7739 | |||
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(HPO:0001336) | Myoclonus | rare [HPO:skoehler] | 115 / 7739 | |||
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(HPO:0002169) | Clonus | 37 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0003128) | Lactic acidosis | 116 / 7739 | ||||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(HPO:0003546) | Exercise intolerance | 62 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0012240) | Increased intramyocellular lipid droplets | 7 / 7739 | ||||
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(OMIM) | Mental retardation, variable | 7 / 7739 | ||||
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(OMIM) | Muscle biopsy shows lipid droplets | 1 / 7739 | ||||
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(OMIM) | Talus valgus | 1 / 7739 | ||||
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(OMIM) | Increased serum and CSF lactate | 7 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(OMIM) | Decreased activity of respiratory complex II+III | 1 / 7739 | ||||
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(OMIM) | Delayed development, variable (in some patients) | 1 / 7739 | ||||
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(OMIM) | Muscle biopsy shows mitochondrial aggregates | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Decreased activity of respiratory complex I+III | 1 / 7739 | ||||
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(OMIM) | Decreased coenzyme Q | 1 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Primary coenzyme Q10 deficiency-4 is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result ... |
| Clinical Description OMIM |
Mollet et al. (2008) reported 4 patients, including 2 sisters, with coenzyme Q10 deficiency manifest as childhood-onset cerebellar ataxia. One patient was able to walk unaided at 1 year of age but fell frequently. He developed cerebellar ataxia ... |
| Molecular genetics OMIM |
In 4 patients from 3 families with primary coenzyme Q deficiency-4 manifest as autosomal recessive childhood-onset cerebellar ataxia, Mollet et al. (2008) found homozygosity or compound heterozygosity for mutations in the ADCK3 gene (606980.0001-606980.0005). Mollet et al. (2008) ... |