Version: 8.0.0
Date: Tue Jan 28 2025
intermediate spinal muscular atrophy
DOID:0050530
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

intermediate spinal muscular atrophy

Definition
A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
Synonyms
  • MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
  • MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
Cross References
Parent Terms
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None
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