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Spinal muscular atrophy with respiratory distress type 1

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

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
  • ES (2014,pdf)
  • EN (2014,pdf)
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