From February 12, all newborn babies will be offered screening for spinal muscular atrophy (SMA), a rare progressive neuromuscular disease.

SMA will be one of more than 20 other rare disorders screened for as part of the long-running Newborn Metabolic Screening Programme.

Each year, the programme screens about 60,000 babies and identifies around 60 cases of rare disorders.

About 98% of New Zealand newborn babies are screened using a heel prick test, also known as the Guthrie test.

The blood spot sample is taken at or as soon as possible after 24 hours of age.

From February 12, all screening samples will routinely be tested for SMA.

SMA screening results will be available quickly, within as little as one day of testing in the laboratory.

“The best treatment outcomes are gained when SMA is detected before symptoms develop through newborn screening, as current treatments for SMA cannot recover lost function,” National Public Health Service national director Dr Nick Chamberlain said.

“Over the past 12 months, we have procured and tested new specialist equipment, as well as put in place the clinical expertise needed to support this screening.

“This an important initiative aimed at helping our newest whānau members get the best start to life possible.”

About four to six babies are diagnosed with this rare genetic disorder each year.

Without the appropriate treatment, this disorder can destroy motor neurones in the spinal cord, cause progressive paralysis, and eventually impair the ability to speak, eat and breathe.

Fully funded treatment for SMA is available in Aotearoa New Zealand, with Pharmac funding the SMA disease modifying drugs nusinersen (Spinraza) and risdiplam (Evrysdi) respectively for people aged 18 years and under with pre-symptomatic SMA or symptomatic Type 1, 2 or 3a SMA.

“Earlier detection of this rare disorder will allow whānau timely access to funded treatment and improved health outcomes for their pēpi [babies].”