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Poland leads in treating rare spinal muscular atrophy: report

14.08.2024 16:00
Poland is emerging as a leader in treating spinal muscular atrophy (SMA), a rare genetic disorder that can lead to disability, according to a report.
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Prof. Anna Kostera-Pruszczyk from the Medical University of Warsaw has highlighted her institution's commitment to addressing SMA, especially noting the effectiveness of Poland's treatment strategies which have evolved significantly since 2019, public broadcaster Polish Radio’s IAR news agency has reported.

August marks SMA Awareness Month, a time when focus is directed towards increasing public understanding of this debilitating condition.

Globally, around 15,000 patients are treated for SMA, with Poland treating about 5 percent of these cases. Each year, 45 to 55 children are born with SMA in Poland, underscoring the importance of continued focus and development in treatment methodologies within the country.

SMA results from a genetic defect that causes progressive loss of neurons in the spinal cord, which are crucial for muscle contractions and relaxations, potentially leading to partial or complete paralysis.

Poland's approach includes a newborn screening program, which helps in early detection and treatment. Further, three effective therapies are now accessible, covering over 90 percent of SMA patients in the country across all ages.

This year, treatment options have also been extended to pregnant women, with Kostera-Pruszczyk announcing the birth of the first child born to a mother with SMA.

Agata Spała-Zakrzewska, who has lived with SMA for over four years and uses a wheelchair, shared her personal improvements due to the advanced treatments.

"I'm much stronger now," she said. "Some functions have returned. For example, I can lift my arms higher, I'm more independent, breathe easier, speak louder, and get less tired. There are many elements that show these drugs work."

(rt/gs)

Source: polskieradio.pl