Spinal muscular atrophy with respiratory distress
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SMARD1 SIANRF SMARD dHMN6 Distal hereditary motor neuropathy type 6 Diaphragmatic spinal muscular atrophy dSMA1 Severe infantile axonal neuropathy with respiratory failure Autosomal recessive distal spinal muscular atrophy type 1 |
| Number of Symptoms | 28 |
| OrphanetNr: | 98920 |
| OMIM Id: |
604320
614399 |
| ICD-10: |
G12.2 |
| 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: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive distal hereditary motor neuropathy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000020) | Urinary incontinence | 75 / 7739 | ||||
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(HPO:0002398) | Degeneration of anterior horn cells | 14 / 7739 | ||||
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(HPO:0000764) | Peripheral axonal degeneration | 6 / 7739 | ||||
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(HPO:0000762) | Decreased nerve conduction velocity | 36 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | 212 / 7739 | ||||
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(HPO:0001558) | Decreased fetal movement | 74 / 7739 | ||||
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(HPO:0001622) | Premature birth | 100 / 7739 | ||||
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(HPO:0009109) | Denervation of the diaphragm | 2 / 7739 | ||||
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(HPO:0006597) | Diaphragmatic paralysis | 16 / 7739 | ||||
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(HPO:0002019) | Constipation | 194 / 7739 | ||||
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(HPO:0009110) | Diaphragmatic eventration | 8 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0001518) | Small for gestational age | 107 / 7739 | ||||
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(HPO:0000975) | Hyperhidrosis | 64 / 7739 | ||||
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(HPO:0001612) | Weak cry | 17 / 7739 | ||||
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(HPO:0002878) | Respiratory failure | 57 / 7739 | ||||
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(HPO:0002789) | Tachypnea | 48 / 7739 | ||||
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(HPO:0005946) | Ventilator dependence with inability to wean | 1 / 7739 | ||||
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(HPO:0005348) | Inspiratory stridor | 8 / 7739 | ||||
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(HPO:0003690) | Limb muscle weakness | 41 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(HPO:0007269) | Spinal muscular atrophy | 24 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0003445) | EMG: neuropathic changes | 21 / 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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