Page 19 - Mobility Management, November/December 2021
P. 19

THE FIVE TYPES OF SMA
Not so long ago, the medical establish- ment recognized four types of spinal muscular atrophy (SMA) — Types 1, 2, 3, 4.
Today, most SMA-related organizations, including Cure SMA and the Muscular Dystrophy Association (MDA), recognize five types.
Type 0 (Zero) is the most severe form of SMA, according to the Cure SMA descrip- tion of the different types.
“Symptoms begin prior to birth and is seen as decreased fetal movement in the weeks prior to delivery,” the Cure SMA Web site says. “At birth, the infant has severe weakness and often difficulty breathing, feeding, and may have joint contractures and cardiac defects. These infants typically require respiratory and
feeding support prior to confirming the diagnosis. These infants may survive a few months.”
Cure SMA notes that SMA Type 1, sometimes called Werdnig-Hoffmann disease, “is the most common (60 percent) and severe form, usually diagnosed during an infant’s first six months.... If not treated, Type 1 can be fatal early on in life.”
Type 2 “is usually diagnosed after 6 months of age, but before 2 years of age,” and while people with SMA Type 2 can usually sit without support, “they are unable to walk and will require a wheelchair.”
Type 3 is “usually diagnosed after 18 months of age, but before 3 years of age” and can be diagnosed in a person’s teens, Cure SMA said: “Individuals with
SMA Type 3 are initially able to walk, but have increasingly limited mobility as they grow, and eventually, many need to use a wheelchair.”
Type 4, which Cure SMA says consists of less than 1 percent of all cases, usually presents after age 35 and results in “mild motor impairment.” m
and it’s currently the only treatment taken at home. Genentech reported that 41 percent of infants with Type 1
SMA who took Evrysdi for 12 months could sit unassisted for at least five seconds — an ability not expected in untreated infants with Type 1 SMA. After 24 months on Evrysdi, 59 percent of the children could sit unassisted for at least five seconds.
After 12 months on Evrysdi, 90 percent of infants were alive and breathing without permanent support, Genentech said. After 23 months on Evrysdi, 81 percent of the children were alive and breathing without permanent support.
Children and adults with Type 2 or 3 SMA demonstrated improved motor function after taking Evrysdi for 12 months,
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