|Posted:||May 25, 2018 01:57 PM|
|From:||Representative Marguerite Quinn|
|To:||All House members|
|Subject:||Adding Spinal Muscular Atrophy (SMA) to the newborn screening list|
|In the near future, I plan to introduce legislation that would add Spinal Muscular Atrophy (SMA) to the newborn screening list. In 2016 The FDA approved a new drug treatment for SMA. Spinzara is a promising treatment to slow muscle deterioration and improve muscle function of SMA patients, but the sooner it is started, the more effective it will be. Because early diagnosis is critical, newborn screening for SMA could dramatically help a child born with this mutated gene.
SMA is a rare genetic neuromuscular disease that affects the part of the nervous system that controls voluntary muscle movement. It involves a loss of significant cells in the spinal cord called motor neurons, which are essential for muscle strength and movement. The neurons regulate muscle activity by sending signals from the central nervous system, which includes the brain and spinal cord, to the limbs. The loss of functioning motor neurons leads to progressive muscle weakness and atrophy, because muscles stop receiving signals from the Central Nervous System. This particular neuromuscular disease has a specific genetic cause. SMA is an autosomal recessive disease, which means for someone to be at risk, he or she must inherit one mutated SMN1 gene from each parent.
In the United States, approximately 1 in 11,000 babies are born with SMA. Approximately 9,000 Americans are believed to be affected and an estimated 1 in 40 people may be carriers. Symptoms and signs of SMA in infancy to onset include: poor head control, weak cough, weak cry, progressive weakness of muscles used to chew and swallow, poor muscle tone, “frog-leg” posture when lying, severe muscle weakness on both sides of body, progressive weakness of muscles that help in breathing. Care and treatment involve many specialists and primary care providers such as neurologists, pulmonologist, dietitian, orthopedist and physical therapist.
Please join me in cosponsoring this important resolution to bring awareness to this condition.
Introduced as HB2484