Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]

This code identifies a severe, inherited neuromuscular disorder characterized by progressive degeneration of anterior horn cells in the spinal cord, leading to muscle weakness and atrophy. It typically presents in infancy with profound hypotonia, respiratory distress, and feeding difficulties, often resulting in early mortality.

Use this code for confirmed diagnoses of Infantile Spinal Muscular Atrophy (SMA) Type I, also known as Werdnig-Hoffmann disease. Documentation should clearly indicate the specific type of SMA, often supported by genetic testing results or characteristic clinical presentation in an infant.

• Differentiate from other types of SMA (e.g., Type II, Type III) which have different ICD-10-CM codes.
• Ensure documentation specifies "Type I" or "Werdnig-Hoffmann" to support this specific code.
• Consider sequencing this code as the primary diagnosis when it is the reason for the encounter.