Spinal Muscular Atrophy - developing an integrated pathway

What is it about?

Spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterised by degeneration of alpha motor neurons in the spinal cord with progressive muscle atrophy, weakness and paralysis. The most common form of SMA is due to a defect in the survival motor neuron 1 (SMN1) gene localised to 5q11.2-q13.3. It includes a wide range of phenotypes that are classified into clinical groups on the basis of age of onset and maximum motor function achieved: SMA is managed through multidisciplinary supportive care. Treatment should follow guidelines from the International Standards of Care Committee for Spinal Muscular Atrophy. Supportive care strategies aim to minimise the impact of disability, address complications and improve quality of life. These may involve respiratory, gastroenterology, and orthopaedic care, as well as nutritional support, physiotherapy, assistive technologies, occupational therapy and social care. New treatments now present opportunities to change the management and survival landscape of SMA. This article highlights the development of an integrated pathway that is being developed by a multi-professional group facilitated by the Neurology Academy.

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Why is it important?

Approximately 1 in 40 people carry an SMA-associated genetic mutation in the survival motor neurone 1 gene (SMN1) leading to an insufficient production of full length SMA protein. As a result 1:10,000 infants is born with the condition. The majority of infants with SMA have the most severe form of the disease (SMA I) in which symptoms manifest in the first few weeks or months of life. Milder forms of the disease also exist, e.g. SMA II, III and IV, which are associated with later onset and better prognosis.

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