juvenile spinal muscular atrophy

Term ID

DOID:12376

Synonyms

• Kugelberg-Welander disease
• SMA3
• Spinal Muscular Atrophy Type 3
• Type III Spinal Muscular Atrophy

Definition

A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy

References

• ICD9CM:335.11
• MESH:D014897
• NCI:C118847
• OMIM:253400
• SNOMEDCT_US_2023_03_01:54280009
• UMLS_CUI:C0152109

Ontology

Human Disease   ( DOID:12376 )