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Spinal muscular atrophy with respiratory distress

Orpha number ORPHA98920
Synonym(s) Autosomal recessive distal spinal muscular atrophy type 1
Diaphragmatic spinal muscular atrophy
Distal hereditary motor neuropathy type 6
SIANRF
SMARD
SMARD1
Severe infantile axonal neuropathy with respiratory failure
dHMN6
dSMA1
Prevalence -
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • G12.2
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.


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Detailed information

Anesthesia guidelines
  • EN (2014,pdf)
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