Spinal Muscular Atrophy

What is Spinal Muscular Atrophy?

Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. Motor neurons control movement in the arms, legs, chest, face, throat, and tongue. When there are disruptions in the signals between motor neurons and muscles, the muscles gradually weaken, begin wasting away and develop twitching.

Facts about SMA

  • Progressive, rare genetic disease and number one genetic cause o infant death
  • One in 50 people in the USA is a genetic carrier of SMA
  • Autosomal recessive disorder meaning a person must inherit one copy of a nonworking or missing gene from each parent
  • On in every 10 000 babies born each year has SMA
  • SMA is now on the newborn screen for Michigan

Treatments Available for SMA:

Gene Therapy (Zolgensma) – one time one hour infusion that synthetically replaces the SMN1 gene that is missing in babies with SMA.

In May 2019, the FDA approved onasemnogene abeparovec-xioi (Zolgensma ™) gene therapy for children less than 2 years old who have infantile-onset SMA.  A safe virus delivers a fully functional human SMN gene to the targeted motor neurons, which in turn improves muscle movement and function, and also improves survival. In August 2020, the FDA approved the orally-administered drug risdiplam (Evrysdi) to treat patients age two months of age and older with SMA.

Spinraza (Nusinersen) – oligonucleotide that is injected into the spinal fluid once every 4 months for life.

In December 2016 the U.S. Food and Drug Administration approved nusinersen (Spinraza™) as the first drug approved to treat children and adults with SMA. The drug is administered by injection into the fluid surrounding the spinal cord. It is designed to increase production of the full-length SMN protein, which is critical for the maintenance of motor neurons. The benefit is best documented in infants and children, particularly when started early. Several other therapies are in late stages of development and may become available to affected individuals in the near future.

Evrysdi (Risdiplam) – oral medication taken daily for life

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