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House of Representatives
Session of 2017 - 2018 Regular Session


Posted: December 19, 2017 03:35 PM
From: Representative Alexander T. Charlton
To: All House members
Subject: Adding Spinal Muscular Atrophy to the PA Newborn Screening Panel
Spinal muscular atrophy (SMA) is a genetic disorder that affects the motor nerve cells in the spinal cord. Depending on the age of onset, SMA can lead to:
• Debilitating muscle weakness
• Inability to perform basic functions, such as walking, eating or breathing
• Death

There are four primary types of SMA—I, II, III, and IV—based on age of onset and highest physical milestone achieved. Type I is the most severe and most common, typically diagnosed during an infant’s first six months. It is often fatal at this early stage in life, and is the number one genetic cause of death for infants. SMA affects approximately one in 11,000 babies, and can affect any race or gender. About one in every 50 people is a genetic carrier for SMA. Because it is an autosomal recessive condition, generally both parents must be carriers for a child to inherit the condition.

Infants with Type I SMA typically begin to experience symptoms between birth and six months of age. Historically, more than 95 percent of these children die in infancy or require extensive respiratory support by their second birthday. Evidence suggests that newborn screening holds great promise for ensuring access to treatment and helping to move toward a cure for this deadly disorder.

Babies with SMA who receive treatment after symptom onset achieve more motor milestones and live longer without permanent respiratory support than babies who do not receive treatment. Babies genetically diagnosed with SMA and who receive treatment before symptoms appear do even better. Early diagnosis and treatment can be life-changing for symptomatic or pre-symptomatic infants with SMA, allowing them a greater likelihood of survival and mobility.

Now that a treatment option is available and data indicates that pre-symptomatic treatment improves clinical outcomes, it is imperative that SMA be added to state newborn screening panels as quickly as possible.

Please join me in co-sponsoring this potentially life-changing piece of legislation.

Introduced as HB2039