Disorders Screened

The Nevada Newborn Screening Program screens infants for over 30 conditions, including metabolic disorders, endocrinal disorders, hematological disorders and cystic fibrosis. Detailed information about some of these conditions can be found below:

Spinal muscular atrophy (SMA)

SMA is a group of inherited conditions that affect the motor neurons of the spinal cord that leads to progressive muscle weakness and atrophy (wasting).  In general, SMA with an earlier age of onset are more severe and have a greater impact on motor function.  Early detection and treatment is important since therapy is most effective when started in the first few months of life.  Approximately one of every 10,000 babies is born with SMA.  Nusinersen (Spinraza) is the first FDA-approved drug therapy for children and adults affected by SMA and can help achieve milestones such as ability to sit independently, stand or walk; maintain motor milestones at ages when they are typically lost; and survive longer than expected.

X-linked Adrenoleukodystrophy (ALD)

ALD largely affects the nervous system and adrenals when certain fats (very long-chain fatty acids or VLCFAs) cannot be broken down in the body.  The buildup of VLCFAs may disrupt the fatty covering (myelin) of the nerve cells in the brain and spinal cord causing the myelin to breakdown, which reduces the ability of the nerve to relay information to the brain and may cause difficulty swallowing or weakness of the legs.  ALD affects 1 in 17,000 individuals (males and females) worldwide regardless of race, ethnicity, and geography.  ALD is an X-linked condition and is more common in males and affects males more severely.  However, 20-40% of females who are carriers had symptoms in adulthood.  Corticosteroid replacement can effectively treat individuals who have adrenal insufficiency.  Allogeneic hematopoietic cell transplantation (HCT) or Stem Cell Transplantation may halt the progression of cerebral ALD in children if diagnosed and treated early.