North Carolina is conducting a pilot study to screen newborns for spinal muscular atrophy (SMA).

The Health Resources and Services Administration’s Advisory Committee on Heritable Disorders in Newborns and Children is currently reviewing this condition for inclusion in the Recommended Uniform Screening Panel (RUSP). A decision is expected in February 2018.

To gather additional information about the technical aspects of screening for SMA in newborns, the National Institutes of Health has awarded a contract to:

•  RTI International,
• University of North Carolina at Chapel Hill (UNC-CH),
• Duke University, and
• North Carolina State Laboratory of Public Health.

This project team will perform laboratory testing and provide follow-up for infants who screen positive for SMA.

• Early Check information for healthcare professionals

About SMA

Spinal muscular atrophy is an autosomal, recessive genetic disorder. It is caused by homozygous deletion of the survival motor neuron 1 gene (SMN1). Individuals affected by SMA are unable to produce sufficient quantities of survival motor neuron (SMN) protein, leading to progressive loss of muscle function as motor neurons shrink and eventually die. This results in:

•  Decreased muscle function and mobility
• Difficulty breathing, coughing, and clearing secretions
• Challenges in maintaining proper nutrition, often requiring a g-tube
• Complications such as contractures and scoliosis

Types of SMA

There are four types of SMA, based on age of symptom onset and the highest physical milestone achieved. The most common and severe form, SMA type 1, appears in the first six months of life and is generally fatal within two years, if not treated.

Genetic Cause

All individuals have at least one copy and often multiple copies of survival motor neuron gene 2 (SMN2). Due to a splicing error, SMN2 produces a small percentage of full-length SMN protein. There is a broad correlation between the number of SMN2 copies and the type of SMA; in general, those with fewer copies have a more severe form of the disease. However, genetic testing cannot conclusively predict which type of SMA an individual will develop.

Treatment

Possible treatments can include:

• Treatment with Spinraza, that treats the underlying genetic cause of SMA. Spinraza, which targets the splicing of SMN2, is the only FDA-approved therapy for SMA.
• SMA is also treated by supportive therapies targeting breathing, nutrition, and muscle function.
• Supportive therapies for breathing, coughing, and eating
• Physical and occupational therapy
• An infant or child may also qualify for one or more clinical trials testing new potential treatments for SMA.

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