
Spinal Muscular Atrophy Type I
Werdnig-Hoffmann Disease
📋Overview
Spinal Muscular Atrophy Type I (SMA Type I), also known as Werdnig-Hoffmann disease, is a severe genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord. It is the most severe and common form of SMA presenting in infancy. Modern terminology classifies it under the broader category of 5q SMA caused by mutations in the SMN1 gene.
Medical codes (for reference)
UMLS CUI: C5848259ICD-10-CM
G12.0
MeSH
D014897
SNOMED CT (US)
64383006
Codes are provided for reference and interoperability. They are not a diagnosis.
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