MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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18
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OrphanetNr:
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OMIM Id:
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600333
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000597)
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Ophthalmoparesis |
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71 / 7739
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2
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(HPO:0000726)
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Dementia |
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131 / 7739
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3
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(HPO:0002398)
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Degeneration of anterior horn cells |
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14 / 7739
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4
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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5
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(HPO:0002093)
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Respiratory insufficiency |
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410 / 7739
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6
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(HPO:0002878)
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Respiratory failure |
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57 / 7739
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7
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(OMIM)
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Subacute progressive motor neuron disease |
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1 / 7739
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8
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(OMIM)
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Frontal lobe and midbrain atrophy on CT scan |
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1 / 7739
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9
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(OMIM)
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Arm weakness |
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2 / 7739
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10
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(HPO:0002483)
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Bulbar signs |
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9 / 7739
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11
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(OMIM)
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Diffuse slowing without paroxysmal discharge on EEG |
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1 / 7739
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12
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(HPO:0002059)
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Cerebral atrophy |
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171 / 7739
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13
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(OMIM)
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Cerebral laminar spongiosis and astrocytosis in layer II of the frontal cortex |
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1 / 7739
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14
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(OMIM)
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No senile plaques, tangles, Pick bodies, or Lewy bodies |
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1 / 7739
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15
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(OMIM)
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Typical Bunina bodies and a few ubiquitin-positive bodies |
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1 / 7739
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16
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(HPO:0008361)
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Corticospinal tract pallor |
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1 / 7739
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17
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(HPO:0002446)
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Astrocytosis |
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7 / 7739
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18
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |