Werdnig-Hoffmann disease

This code represents Werdnig-Hoffmann disease, also known as Spinal Muscular Atrophy (SMA) Type 1. It is a severe, inherited neuromuscular disorder characterized by progressive degeneration of anterior horn cells in the spinal cord, leading to profound muscle weakness, hypotonia, and atrophy, typically presenting in infancy.

Use this code for diagnoses of Werdnig-Hoffmann disease confirmed by clinical presentation, genetic testing (SMN1 gene deletion), and electromyography findings. It is appropriate for initial diagnosis and subsequent encounters related to the management of this specific type of SMA.

• Ensure documentation clearly specifies SMA Type 1 to differentiate from other SMA types.
• Consider sequencing this code as the primary diagnosis when it is the main reason for the encounter.
• Look for associated symptoms and complications, such as respiratory failure or feeding difficulties, to code additionally.