Minnesota begins screening newborns for Duchenne muscular dystrophy, GAMT deficiency
The Minnesota Department of Health has officially added two more diseases to the list of more than 60 conditions for which newborns are typically screened.
Newborns in Minnesota can now be screened for Duchenne muscular dystrophy (DMD) and guanidinoacetate methyltransferase (GAMT) deficiency.
DMD is the most common form of muscular dystrophy. The condition is usually not diagnosed until age 5, at which point skeletal muscles are already damaged and there are limited options for treatments, MDH says.
While there is no cure, treatment can make symptoms and muscle breakdown less severe. A new gene therapy shows positive signs of slowing the disease's progression.
It is typically found in boys, though females can be genetic carriers. The life expectancy for men with DMD is around 20 years of age.
The Department of Health says as many as nine newborns are expected to need DMD treatment in Minnesota each year.
GAMT is a lifelong metabolic disorder that, if left untreated, can cause a toxic buildup and result in learning and behavioral issues as well as brain and muscle problems. Symptoms usually begin before the child's first birthday but can start as late as 3 years old.
Based on the state's birth rate, MDH only expects the deficiency in no more than one child per year.
In 2023, MDH screened more than 60,400 newborns and recommened early intervention and treatment in approximately 400 of them.