These Good Practice Points set out what health visitors need to know on identifying, referring and supporting infants with Spinal Muscular Atrophy – type 1.
Spinal muscular atrophy (SMA) is a rare, progressive, inherited monogenic disease characterised by lower motor neuron degeneration, muscle weakness and breathing and swallowing difficulties.
SMA represents a continuum or spectrum of disease and is typically classified into four types (types 1 to 4) that can range in severity and age of onset. In SMA type 1, the most severe and common form and the focus of this Good Practice Points resource, most lower motor neuron degeneration occurs in the first few months of life causing rapid and irreversible damage.
This GPP outlines some practical measures along with up-to-date evidence and references.
The production of this GPP included editorial support and sponsorship from Novartis Gene Therapies – and is open access to all.