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If someone in your family has SMA, your chance of being an SMA carrier significantly increases. When both parents are carriers, there is a 1 in 4 (25 percent) chance with each pregnancy that they will have a child with SMA.

The Spinal Muscular Atrophy Program brings together specialists who are experienced in caring for children with this rare condition. Learn more.

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Spinal muscular atrophy (SMA) is a rare hereditary genetic condition in which muscles throughout the body are weakened because nerve cells in the spinal cord and brainstem do not work properly. SMA is the number one genetic cause of infant mortality.

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Our team is among the researchers involved in the ongoing FIREFISH trial, which provided some of the clinical information leading to ridsiplam’s FDA approval. This trial, and others we participate in, will continue to investigate risdiplam in participants for several years.

Before receiving the gene therapy, children first have blood tests to make sure patients qualify for the treatment. Zolgensma® is given through an intravenous (IV) infusion at our treatment center. The infusion takes about one hour.

Due to the success of clinical trials, the FDA approved the use of nusinersen for SMA in children and adults in 2016, and we began offering the drug to all eligible SMA patients. Our multispecialty SMA team helped to develop standardized ways to measure patients’ SMA symptoms and the changes in these symptoms over time. These results are being used to measure the effectiveness of nusinersen and other treatments.

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Known formerly as AVXS-101, this one-time gene therapy treatment replaces the defective or missing gene (SMN1), which is responsible for making the survival motor neuron (SMN) protein. Providing a functional copy of SMN1 prevents motor neurons and muscles from degenerating further.

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While originally made of glass, the Fresnel lens can be found in a large variety of substrates and sizes. Nowadays, Fresnel lenses are made of plastic because of the lightweight traits of plastic compared to glass.

The Department of Neurology cares for infants, children, and adolescents with all types of neurologic and developmental disorders.

Due to the design of the Fresnel lens, this lens can produce individual light patterns. Fresnel lenses can have an unlimited combinations of light patterns in it’s design. In today’s world, Fresnel lenses are commonly used in solar applications. This is because of the lens’ ability to concentrate light onto a heated surface. If you have a solar panel unit to heat your home or your pool, your solar panel system likely uses a Fresnel lens.

The Care for Children with Medical Complexity program strives to provide high quality of care across the continuum to more than 4,000 children with medical complexity.

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Since 2016, Boston Children’s Spinal Muscular Atrophy Program has been actively involved in the key clinical trials for risdiplam (brand name Evrysdi), the first oral drug treatment for SMA. Risdiplam is the third treatment for SMA and was FDA approved in 2020 for use in children 2 months and older.

The Spinal Muscular Atrophy Program at Boston Children’s Hospital brings together a team of experts from different specialties experienced in caring for children with SMA. We hold a dedicated SMA clinic once or twice a month so that your child can receive all of their SMA-related care in a single visit. This approach means that our various specialists can all work closely with your family to make sure your child’s care is well coordinated. Our program offers several therapy choices, including gene therapy, for SMA.

Our program was also involved in clinical trials of nusinersen (brand name Spinraza), the first drug treatment for SMA. We were the first hospital in the world to enroll an infant with type 1 SMA in the phase 3 ENDEAR trial in 2014.

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For more information about SMA gene therapy or to refer a patient, contact the Spinal Muscular Atrophy Program at 617-919-6814.

Fresnel lenses are lenses composed of a series of concentric rings. The Fresnel lens construction design allows for large aperture and short focal length with less mass and volume compared with a conventional lens design. Fresnel lens were invented by French physicist Augustin Jean Fresnel (1788-1827) and used in lighthouses all around the world. Since then it has been used in applications for light collection, light collimation and magnification. Today a common application that you will find a Fresnel lens in is a magnifying glass. You will likely find Fresnel lenses in detector operations, condenser systems and emitter operations. However, you can also find Fresnel lenses in devices used for illumination.

Symptoms of spinal muscular atrophy (SMA) vary greatly depending on the type. Children with the more serious form of SMA (Type 1) usually have more severe symptoms that are noticeable within the first six months of life. Those with milder forms have less severe symptoms that may not be noticeable until the child is 18 months or older.

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As yet, there is no complete cure for SMA. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA — a gene replacement therapy called Zolgensma, and two drugs, called nusinersen (Spinraza) and risdiplam (Evyrsdi). All three treatments were tested in clinical trials at Boston Children’s Hospital and elsewhere prior to their approval by the U.S. Food and Drug Administration (FDA).

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Fresnel lenses were initially produced by hand grinding and polishing glass. The manufacturing process was tedious and later evolved into molten glass poured into molds. In the 20th century, optics quality plastic and injection-molding were used to produce commercial applications. Fresnel lenses can be manufactured from a variety of substrate such as acrylic, polycarbonate or vinyl.

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With a Fresnel lens, the conventional optical lens is replaced. This is because the Fresnel lens’s contour can refractive surfaces more efficiently than a conventional optical lens. In other words, the Fresnel lenses are designed to manipulate parallel light rays and focus them in a common area. The three main ways that a Fresnel lens can be used are for: • Magnification • Light collection • Light collimation Even though the Fresnel lens is a lot more narrow than other types of lenses available, they can focus light a lot more efficiently than conventional optical lenses. Also, Fresnel lenses don’t scatter light across surfaces. This means that most of the material used in a Fresnel lens can increase the absorption of light upon the object that’s being looked at.

The gene affected in SMA is the “survival of motor neuron” gene (SMN1 and SMN2). In 95 percent of SMA cases, both copies of the SMN1 gene are missing. All people with SMA have a number of copies of the SMN2 gene. But the SMN2 gene produces only a small amount of functional SMN protein; the more copies of the SMN2 gene a child has, the milder the disease.

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Boston Children’s is one of the first pediatric hospitals in the nation to offer an FDA-approved gene therapy for the treatment of spinal muscular atrophy in children less than 2 years of age. Known by the brand name Zolgensma®, this gene therapy prevents further motor neuron and muscle degeneration by replacing the defective or missing SMN1 gene.

SMA is an autosomal recessive disease. This means that (most of the time) both parents must carry the genetic mutation for a child to have the condition.

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SMA is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. Doctors usually diagnose SMA after a child has muscle weakness and decreased muscle tone.