What Is Spinal Muscular Atrophy (SMA)?

Spinal Muscular Atrophy (SMA) is a genetic and degenerative disease that attacks the neurons responsible for body movement. It can appear in the first months of life or emerge later — in childhood, adolescence, or adulthood. The condition affects roughly one in every 8,000 people.

Why Does Early Diagnosis Matter So Much?

Neurologist Paulo Sgobbi, medical director of PSEG Clinical Research Center, is direct: "Every day — actually, every second counts in spinal muscular atrophy. Neurons are dying, and once they are gone, no current treatment can bring them back. We can only treat the ones that are still alive."

Early detection allows treatment to begin before irreversible motor damage occurs, preserving function and improving long-term quality of life.

What Are the Warning Signs?

In infants, red flags include difficulty holding up the head, problems breastfeeding or breathing, and failure to reach developmental milestones. In older children and adults, gradual muscle weakness may make it hard to run, climb stairs, or walk.

How Is Brazil Addressing the Issue?

Specialists advocate expanding neonatal screening by adding SMA to the public health system's (SUS) newborn heel-prick test. Sérgio Fernando Nardini — writer, speaker, and founder of the project "Pai de Rodinhas" — lived with SMA since childhood but only received a correct diagnosis after the age of 40. He describes today's landscape as transformed: better support networks, greater visibility, and new therapies are now available.

Still, Nardini acknowledges that people with disabilities continue to face prejudice and a lack of public awareness. His message to families: shift the question from "Why is my child like this?" to "What can I do to help my child live well and be happy as they are?"

Key Facts:
  • SMA National Day is celebrated on August 8.
  • SMA affects approximately 1 in 8,000 people.
  • The disease is genetic and degenerative, targeting motor neurons.
  • Dead neurons cannot be recovered — only surviving ones can be treated.
  • Specialists call for SMA to be added to Brazil's SUS heel-prick test.
  • Sérgio Nardini received his correct diagnosis only after age 40.