Spinal muscular atrophy

Dr Gina O’Grady provides an update on spinal muscular atrophy (SMA), including how prompt recognition of hypotonia and timely referral means disease modifying therapies can be started early, which may alter prognosis and longevity.

Topics

intro
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a definition of Spinal muscular atrophy (SMA)
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How common is SMA?
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What is the aetiology of SMA?
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What are the types of SMA?
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How would a neonate/ child present with SMA?
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Clinical examination, what are we looking for?
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What investigations would we request in primary care?
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how quickly should we be referring to specialist care?
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what could a family expect to happen next?
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Optimal management
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What is the prognosis for a an SMA patient?
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Are there any treatments that can alter the disease course of SMA?
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Are there any other treatments on the horizon?
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Nusinersen-Who is eligible?
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What class of drug is it and how does it work?
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How is it administered?
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How effective is it?
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SMA is not currently screened for in NZ- is this something we should be advocating for?
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What is available for families in anticipation of a second pregnancy?
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take-home messages
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Take home messages

Without treatment SMA is the leading genetic cause of infant death.
Consider SMA in a floppy, weak infant with a bright, alert face and absent tendon reflexes.
When SMA is suspected consider urgent referral for specialist review.
Nusinersen, a disease modifying treatment, is now funded in New Zealand improving survival and motor outcomes for infants and children with SMA.
Early access to treatment is associated with the best clinical response to therapy.

Resources

Hypotonia in neonates Starship Hospital
Nusinersen - New Zealand Formulary for Children
International Standards of Care for SMA - Spinal muscular atrophy UK
Decision to fund nusinersen (Spinraza) for SMA - PHARMAC
Spinal Muscular Atrophy GeneReviews® [Internet] (Updated 2020)
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy N Engl J Med (2017)

Patient Resources

Spinal Muscular Atrophy The Royal Children's Hospital Melbourne (2018)
Spinal Muscular Atrophy Muscular Dystrophy New Zealand

Presenter

Gina O'Grady

Paediatric Neurologist

Gina O’Grady is a Paediatric Neurologist at Starship Children’s Hospital. She has a subspeciality interest in paediatric neuromuscular disease and genetic diagnosis. She runs a neuromuscular management clinic at Starship Children’s Hospital and has lead the roll out of disease modifying therapy for the treatment of Spinal Muscular Atrophy (SMA) in New Zealand.