Proximal spinal muscular atrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SMA |
| Number of Symptoms | 28 |
| OrphanetNr: | 70 |
| OMIM Id: |
253300
253400 253550 271150 |
| ICD-10: |
G12.0 G12.1 |
| 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: | 3 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic motor neuron disease
-Rare genetic disease -Rare neurologic disease Genetic peripheral neuropathy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001308) | Tongue fasciculations | 18 / 7739 | ||||
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(HPO:0000384) | Preauricular skin tag | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0000921) | Missing ribs | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Frequent [Orphanet] | 110 / 7739 | |||
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(HPO:0001558) | Decreased fetal movement | 74 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | Frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | 274 / 7739 | ||||
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(HPO:0001004) | Lymphedema | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0002878) | Respiratory failure | 57 / 7739 | ||||
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(HPO:0001608) | Abnormality of the voice | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0007126) | Proximal amyotrophy | 29 / 7739 | ||||
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(HPO:0003445) | EMG: neuropathic changes | 21 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0003457) | EMG abnormality | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0008994) | Proximal muscle weakness in lower limbs | 11 / 7739 | ||||
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(HPO:0007269) | Spinal muscular atrophy | 24 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0011420) | Death | Frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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