Materiały źródłowe

• #1 Childhood Spinal Muscular Atrophy (SMA) – Treatment and Prevention

  https://www.samitivejhospitals.com/article/detail/treatment-and-prevention-spinal-muscular-atrophy-SMA

  Spinal muscular atrophy is the second most common form of genetic disease affecting children after thalassemia. […] Genetic screening and preconception spinal muscular atrophy carrier gene screening are both ways in which the condition can be prevented. […] Due to this condition being genetically transferable via recessive genes, spinal muscular atrophy can be prevented by genetic screening techniques, including preconception SMA carrier gene screening. […] Screening for SMA genes is a simple, uncomplicated procedure that can be carried out with a blood test that offers results within a one-month timeframe.

• #2 Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care – PubMed

  https://pubmed.ncbi.nlm.nih.gov/31707373/

  Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. […] First drugs have been approved for treatment of patients with SMA and if initiated early they can significantly modify the natural course of the disease. […] As a consequence, newborn screening for SMA is explored and implemented in an increasing number of countries. […] Collection of real-world data with standardized outcome measures will be essential to improve both the understanding of treatment effects in patients of all SMA subtypes and the basis for clinical decision-making in SMA.

• #2 SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

  SMA is an inherited condition, so its not typically preventable. […] Carrier testing for SMA is available using a genetic test. If you or your partner carry the mutated gene that causes SMA, a genetic counselor can explain the chances of your child having SMA or being a carrier. […] You may be able to take steps before pregnancy to lower the risk of passing on SMA. A process called preimplantation genetic diagnosis (PGD) identifies embryos that dont have the mutated gene. Your healthcare provider implants healthy embryos during in vitro fertilization (IVF).

• #3 Stem Cell Treatment for SMA – Spinal Muscular Atrophy

  https://stemcellthailand.org/therapies/spinal-muscular-atrophy-sma/

  It is believed that if both parents are carriers of this genetic disorder, the chance of the child developing this disease is 25%. Potential parents can use genetic testing to see if they are carriers of this gene through PGD pre-implementation genetic diagnosis testing, which is available in most countries worldwide, including Thailand. […] Due to its genetic nature, traditional treatments have resulted in inconsistent results. Neural stem cell transplants and gene therapy are currently the most effective treatment options for the control and remission of spinal muscular atrophy. […] The estimated two-week treatment protocol in Bangkok targets the increased production of the SMN 1 and 2 genes responsible for healthy motor-neuron functions. […] Our SMA stem cell treatment helps to slow down the rapid progression of the disease and has been used in regenerative medicine for over 20 years to treat a wide variety of spinal cord accidents/injuries and other neuromuscular diseases that are interrupting the proper flow of neuro-signals that control our nerve and voluntary muscular movement. […] Physical Rehabilitation therapy is optional but available full-time or part-time after treatment.

• #4 Spinal muscular atrophy (SMA) | healthdirect

  https://www.healthdirect.gov.au/spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a genetic condition. […] Although there is no cure for spinal muscular atrophy, there are new treatments available. […] Can SMA be prevented? […] However, from November 2023, Medicare will cover the cost of reproductive carrier testing. You may have this test: before you become pregnant, in the early stages of pregnancy. […] These tests allow you to make choices about having children and help identify babies at risk of SMA. […] Newborns with SMA can be started on treatment before symptoms appear. This can improve both their functioning and survival. […] Research is looking at ways to prevent, diagnose and treat spinal muscular atrophy.

• #5

  https://www.jscreen.org/hereditary-diseases/spinal-muscular-atrophy?srsltid=AfmBOopMq1tmZr0dNXKhqE8BAS2xHkBYkPvBAMgc7Q_vjMxQElZcJJsA

  There is no cure for spinal muscular atrophy, however treatments have made a major impact on disease progression. […] Ideally, a couple should be aware of their carrier status, so that if they have a baby with SMA, treatment can be initiated before symptoms arise. […] Also, if they know their carrier status before pregnancy, a couple can use options like IVF (in vitro fertilization) and PGT (preimplantation genetic testing) to ensure the child inherits at least one working copy of the SMN1 gene, and never develops the condition.

• #6 Spinal Muscular Atrophy (SMA): Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/spinal-muscular-atrophy/

  SMA cannot be prevented. […] If both parents learn through genetic testing they are SMA carriers, they have options to reduce the chance that they will give birth to a child who will develop SMA. Parents can prevent their child from having SMA by using in vitro fertilization (IVF), which allows a clinic to screen embryos for the disorder before implantation.

• #7 Spinal Muscular Atrophy | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/spinal-muscular-atrophy

  Early detection and treatment of SMA is important since studies suggest that therapy is most effective when started in the first few months of life. […] Follow-up testing must be conducted as soon as possible to determine whether or not your baby has the condition. […] Regardless of what type of treatment is chosen, it is important that individuals with SMA begin therapy as soon after diagnosis as possible. Early treatment is the only way to prevent motor neuron loss. […] Studies suggest that therapy for SMA is most effective when started in the first few months of life before significant loss of motor neurons occurs. This is why newborn screening for SMA is so important.

• #8 Advances and limitations for the treatment of spinal muscular atrophy | BMC Pediatrics | Full Text

  https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03671-x

  Treatment is more successful if patients are treated presymptomatically, suggesting newborn screening is highly beneficial for this patient population. […] It has been estimated that screening all newborns in the United States for SMA would find about 364 infants with the disorder annually, preventing up to approximately 100 children with SMA Type 1 from needing permanent ventilation and preventing up to approximately 68 deaths each year. […] The recent introduction of newborn screening programs is identifying patients with SMA sooner, enabling early treatment referrals to SMA experts, who could recommend presymptomatic treatment; however, despite improvements in motor function with SMN-dependent treatments, there remain limitations of the current SMN-upregulating treatments that may contribute to unmet patient needs, that include achieving beneficial efficacy outcomes.

• #8 Advances and limitations for the treatment of spinal muscular atrophy | BMC Pediatrics | Full Text

  https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03671-x

  Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein. […] Recently, three therapeutics that increase SMN protein levels in patients with SMA have provided incremental improvements in motor function and developmental milestones and prevented the worsening of SMA symptoms. […] A potential combination therapy under development for SMA targets myostatin, a negative regulator of muscle mass and strength. […] A recently completed phase 2 trial demonstrated the potential clinical benefit of apitegromab by improving or stabilizing motor function in patients with Type 2 and Type 3 SMA and providing positive proof-of-concept for myostatin inhibition as a target for managing SMA.

• #9 Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy

  https://www.mdpi.com/2409-515X/10/3/56

  Spinal muscular atrophy (SMA) causes the degeneration of motor neurons in the spinal cord. Treatments including nusinersen, risdiplam, and onasemnogene abeparvovec have been shown to be effective in reducing symptoms, with recent studies suggesting greater effectiveness when treatment is initiated in the presymptomatic stage. […] Recently, the treatment of SMA in the presymptomatic stage has been suggested to improve outcomes compared to the treatment of symptomatic disease. Presymptomatic treatment may be facilitated by identifying babies at an early stage via newborn screening. […] This review also identified six comparative observational studies, three comparing presymptomatic versus symptomatic cohorts, and three comparing a screened cohort (including a mix of presymptomatic and early symptomatic patients) against a cohort identified via symptoms. These studies suggested that patients in the screening (or presymptomatic) cohorts received earlier treatment and may have improved outcomes compared with patients identified via symptoms, both for patients with two and three SMN2 copies.

• #10 Treatment Brings Hope to Children Facing Spinal Muscular Atrophy, a Disabling, Often Fatal Disease | UNC Health Talkhealth wellnessstethoscopeStorieshealth wellnessstethoscopeStoriestwitter-iconfacebook-iconpinterest-iconemail-iconhealth wellnessstethosco

  https://healthtalk.unchealthcare.org/treatment-brings-hope-to-children-facing-spinal-muscular-atrophy-a-disabling-often-fatal-disease/

  There is new hope for young patients who are diagnosed with a severely debilitating and often fatal genetic disease called spinal muscular atrophy, or SMA. […] Spinraza has changed the course of SMA, Dr. Shiloh-Malawsky says. […] If treated early before symptoms start, most of these patients can have normal milestones, normal development. If treated later after symptoms develop, most patients will stop having deterioration of their condition and may even gain some strength, she says. […] To extend hope to more families, Drs. Fan and Shiloh-Malawsky want to see more genetic screening for SMA done on newborns. Then they can treat those who are diagnosed earlier and hopefully see more results like Kirra’s. […] There’s a lot of hope, but there’s a lot of work to be done, Dr. Shiloh-Malawsky says. […] The Lees are proof of the power of screening and treatment; both Nathan and Kirra continue to do well.

• #11 6 Therapies on the Horizon for Spinal Muscular Atrophy – BioSpace

  https://www.biospace.com/drug-development/6-therapies-on-the-horizon-for-spinal-muscular-atrophy

  Since 2016, the FDA has approved three disease-modifying treatments for spinal muscular atrophy, with several companies including Novartis, Scholar Rock and Biogen progressing novel candidates through clinical trials. […] The landscape of SMA has changed drastically for the better, Seth Perlman, a neurologist at Seattle Childrens Hospital, told BioSpace. It is a completely different world. We’re not expecting to see children die before age two. […] Most investigational drugs seek to boost the amount of functional protein or deliver a functional copy of the SMN1 gene, but recent innovations in this space also target muscles directly. […] Unlike other drugs, apitegromab directly targets muscles, selectively inhibiting the activation of myostatin. Perlman said apitegromab could be an effective add-on to other therapies, especially for people with SMA who may have already developed muscular weakness.

• #12 Spinal Muscular Atrophy Treatments | Children’s Mercy Kansas City

  https://www.childrensmercy.org/departments-and-clinics/rehabilitation-medicine/spinal-muscular-atrophy-treatments/

  Currently, there are two FDA-approved treatment options for SMA, Spinraza and Zolgensma. […] As more states (including Missouri) are beginning to require newborn screenings for SMA, many more children are able to be diagnosed and begin treatment earlier for better outcomes. […] With both Spinraza and Zolgensma, the sooner your child can receive treatment after their diagnosis, the better the results. It is often possible to begin treatment once your child’s diagnosis is confirmed, even if they have not yet begun to show symptoms of SMA. […] Your SMA team at Childrens Mercy will help you determine which treatment is best for your child and navigate the process of pre-authorization, billing and insurance with your family.

• #13 Spinal Muscular Atrophy (SMA) | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/neurosciences/spinal-muscular-atrophy

  Nusinersen and onasemnogene abeparvovec-xioi are currently the only FDA-approved treatments for SMA. […] Nusinersen, which is the only medication approved for both children and adults with SMA, has been shown to halt the progression of disease. It may also help people regain some of the motor function lost due to SMA. […] Genetic testing for Nusinersen treatment.

• #14 Spinal Muscular Atrophy | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/spinal-muscular-atrophy.html

  Our doctors helped develop a disease-modifying drug, Spinraza, and treated the first adult ever, after FDA approval. […] The drug helps the surviving motor neuron (SMN2) gene make the SMN protein work more efficiently and improve the health of the nerves that control muscles. […] Our team determines if you will be eligible for the drug after baseline tests, including a genetic test, imaging, labs, and physical therapy assessment, and we work with your insurance company to obtain approval. […] Once your insurance authorization is complete, you will receive four injections in the first two months and injections every four months after. […] At Stanford, we have extensive experience in diagnosing and treating spinal muscular atrophy (SMA). […] We offer access to clinical trials, new therapies and other advanced treatment options in a supportive environment. […] Spinraza is the only FDA approved treatment for SMA.

• #15 Spinal muscular atrophy treatment in utero | Nature Reviews Neurology

  https://www.nature.com/articles/s41582-025-01076-9

  An article recently published in The New England Journal of Medicine by Richard Finkel and colleagues reports the successful prenatal treatment of a child with spinal muscular atrophy (SMA) type 1 a severe motor neuron disease caused by loss of function of the survival motor neuron 1 (SMN1) gene. […] A fetus was identified to be at risk of SMA type 1 owing to their family history, and the diagnosis was confirmed by genetic testing, which revealed the absence of SMN1 and the presence of two copies of the SMN2 gene. […] The small-molecule drug risdiplam, which works by altering the splicing of SMN2 mRNA to increase the production of functional SMN protein, was administered daily to the mother from 32 weeks and 5 days gestation until the time of birth and daily to the infant from 8 days of age.

• #16 Learn About Evrysdi® (risdiplam), Approved Adults, Children, and Infant Spinal Muscular Atrophy (SMA) Treatment | Official Patient Site

  https://www.evrysdi.com/

  Evrysdi is a prescription medicine used to treat spinal muscular atrophy (SMA) in children and adults. […] Before taking Evrysdi, tell your healthcare provider about all of your medical conditions, including if you: are pregnant or plan to become pregnant, as Evrysdi may harm your unborn baby. Ask your healthcare provider for advice before taking this medicine […] There is a pregnancy registry for women who take Evrysdi during pregnancy. The purpose of this registry is to collect information about the health of the pregnant woman and her baby. If you are pregnant or become pregnant while receiving Evrysdi, tell your healthcare provider right away. […] Evrysdi may affect a mans ability to have children (fertility). Ask a healthcare provider for advice before taking this medicine. […] It is not known if Evrysdi passes into breast milk and may harm your baby.

• #17 UT Health Austin | Providing Hope for Infants With Spinal Muscular…

  https://uthealthaustin.org/blog/providing-hope-for-infants-with-spinal-muscular-atrophy

  A single infusion of a new treatment called Zolgensma (onasemnogene abeparvovec) can prevent the severe neuromuscular effects of spinal muscular atrophy (SMA), a genetic condition associated with serious neuromuscular dysfunction and high mortality. […] Dr. Young recommends that couples hoping to start a family undergo counseling even earlier, a few months before they plan to conceive, to determine whether they are a carrier for mutations that cause genetic conditions like SMA through blood testing and discuss their risk of having a child with such conditions. Pre-conceptual counseling can help optimize outcomes for the baby, says Dr. Young. […] Following a formal diagnosis of SMA, Dr. Vedanarayanan recommends the patient undergo treatment as soon as possible to experience the best outcome. The procedure is typically performed within the first few weeks of life. […] Children with an immune sensitivity to AAV9 should not undergo Zolgensma treatment, shares Dr. Vedanarayanan.

• #18 Spinal Muscular Atrophy

  https://patienteducation.asgct.org/disease-treatments/sma

  Spinal Muscular Atrophy (SMA) is a rare genetic disease that affects the motor nerve cells in the spinal cord and is the leading genetic cause of infant mortality. […] Gene therapy is a fitting approach for diseases caused by a single gene mutation, like SMA. It targets the cause of disease by delivering a working fully functioning copy of the gene into motor neuron cells. […] There are a few approved gene therapy treatment options available that can help manage symptoms of SMA, along with slowing or stopping disease progression. […] Clinical trials are a required part of the research process that aim to help researchers understand the way a drug or treatment will interact with the human body and whether it is safe and effective. […] The aim for SMA gene therapy is to only need one administration by targeting the cause of the disease.

• #19 Promising results from first prenatal therapy for spinal muscular atrophy – St. Jude Children’s Research Hospital

  https://www.stjude.org/media-resources/news-releases/2025-medicine-science-news/promising-results-from-first-prenatal-therapy-for-spinal-muscular-atrophy.html

  Prenatal therapy for spinal muscular atrophy (SMA) with risdiplam shows promise in a first-of-its-kind study published in The New England Journal of Medicine led by Richard Finkel, MD, St. Jude Center for Experimental Neurotherapeutics director and Department of Pediatric Medicine member. […] This study demonstrates the feasibility of treating SMA prenatally and supports further investigation into the approach. […] The results suggest it would be worthwhile to continue investigating the use of prenatal intervention for SMA. […] The research demonstrates the safety and feasibility of the approach and bolsters the case for a more comprehensive study.

• #20 First-Ever Prenatal Treatment for Spinal Muscular Atrophy Shows Promise | MedPage Today

  https://www.medpagetoday.com/neurology/generalneurology/114283

  The first prenatal treatment for spinal muscular atrophy showed promise in a single case report. […] The first prenatal therapy for spinal muscular atrophy (SMA) showed promising results, a case report indicated. […] More than 2 years after the child was born, no identifiable features of SMA have been observed, reported Richard Finkel, MD, of St. Jude Children’s Research Hospital in Memphis, Tennessee, and colleagues in a correspondence to the New England Journal of Medicine. […] Widespread newborn screening for SMA has been in place across the U.S. since 2018, and all 50 states now screen for it. […] „Even with newborn screening and identification of babies with SMA shortly after birth, and with prompt initiation of one of the three FDA-approved drugs for SMA, it is now apparent that a substantial proportion of these babies — mainly those with the genotype predictive of type 1 SMA — lag behind in their motor development and, in some cases, have limitations in feeding and respiratory status,” Finkel told MedPage Today.

• #21 First-Ever Prenatal Treatment for Spinal Muscular Atrophy Shows Promise | MedPage Today

  https://www.medpagetoday.com/neurology/generalneurology/114283

  „This observation, along with neuropathological data to indicate that the neurodegenerative process in SMA begins in utero, generated the idea of starting treatment in utero,” he said. […] „The overarching goal in this first case study was to demonstrate feasibility of prenatal therapy with one of these drugs, generate safety data, and gather biomarker and clinical data that might give a hint of improved efficacy when compared to initiation of treatment postnatally,” he added. […] The case study may generate further discussion in the SMA community about whether prenatal treatment should be pursued further in formal clinical trials, Finkel observed. […] „It may offer another option for some babies that could optimize the response to treatment during a time of high motor neuron vulnerability.”

• #22 Advances and limitations for the treatment of spinal muscular atrophy | BMC Pediatrics | Full Text

  https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03671-x

  The monoclonal antibody apitegromab which blocks the activation of the negative regulator of muscle growth, myostatin, is in clinical development. […] Apitegromab has provided evidence of the potential to treat SMA and may represent a unique, SMN-independent approach, specifically targeting both forms of promyostatin; more specifically, a muscle-targeted therapeutic option for patients that still experience motor function deficits despite SMN protein-increasing therapy. […] Apitegromab, in combination with an SMN upregulator may further enhance motor function.

• #23 Spinal Muscular Atrophy | Scholar Rock

  https://scholarrock.com/patients-families/areas-of-focus/spinal-muscular-atrophy/

  Apitegromab for spinal muscular atrophy (SMA) […] Apitegromab aims to help people with SMA improve their strength, function and endurance. Apitegromab is designed to selectively target latent, or upstream, myostatin—a protein growth factor that regulates muscle growth—to turn myostatin off before it is activated in a person’s muscle. The intent is to maintain or increase motor function for people currently being treated with existing SMA therapies that can slow further motor neuron degeneration but do not directly address muscle atrophy. […] By selectively turning myostatin “off” and allowing muscle growth to occur, apitegromab treatment could potentially build muscle mass. […] Apitegromab is designed to work like a wrench that can turn off the water supply (myostatin) before it ever reaches the kitchen sink (muscle). By “turning off” myostatin before it can be expressed, skeletal muscle cell growth has the potential to continue, which may improve muscle strength in a patient. […] As we advance investigational therapies through clinical development, our goal is to provide access to these therapies at the appropriate time and in the correct manner for patients.

• #24 New Target Found for Treatment of Spinal Muscular Atrophy | Lurie Children’s

  https://www.luriechildrens.org/en/news-stories/new-target-found-for-treatment-of-spinal-muscular-atrophy/

  Nowa metoda może przezwyciężyć ograniczenia terapii genowej dla SMA. […] Inhibitor Cdk5 mógłby leczyć wszystkich pacjentów, w tym dzieci, których podtyp SMA czyni ich niekwalifikującymi do terapii genowej. […] Po opracowaniu lepszego inhibitora, leczenie mogłoby rozpocząć się tak szybko, jak tylko zdiagnozowane zostanie SMA poprzez przesiewowe badania noworodków, zanim pojawią się objawy.

• #25 Pneumonia and Spinal Muscular Atrophy (SMA): How To Lower Your Risk | mySMAteam

  https://www.mysmateam.com/resources/pneumonia-and-sma-how-to-lower-your-risk

  Spinal muscular atrophy (SMA) causes muscle weakness and muscle wasting, which can also occur in the respiratory (breathing) muscles. Muscle weakness surrounding the lungs, as well as other factors, can put people with SMA at risk of developing pneumonia. […] Although pneumonia can be scary, there are steps you can take to help prevent it while living with SMA. […] There are several actions you can take to avoid aspiration pneumonia and bacterial or viral pneumonia. […] In order to avoid aspirating food or beverages, take the following precautions whenever you eat or drink: Avoid certain foods and beverages. Eat and drink slowly. Take small bites. Don’t eat while distracted. Sit upright during and after meals. Try occupational therapy. Use a feeding tube. […] People with SMA are more likely to develop pneumonia after coming down with viral or bacterial illnesses compared to the general population. Because of this greater risk, you should take extra precautions to avoid illness, especially during cold and flu season.

• #26 Medical Management – Spinal Muscular Atrophy (SMA) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/spinal-muscular-atrophy/medical-management

  To prevent respiratory infections, almost everyone with SMA should get a flu shot every year. Other precautions include staying away from crowds and getting adequate rest and nutrition. […] Your MDA Care Center team can advise you about respiratory care, flu shots, and related matters. […] Bulbar dysfunction, inability to eat, risk of aspiration, and failure to thrive is very common within the SMA population, especially those diagnosed with SMA type 1. Therefore, food consistency changes can help to improve food intake and reduce the risk of aspiration. […] An MDA Care Center physician and other staff members can help you with nutritional issues for yourself or your child. […] Genetic counseling is recommended by the American College of Genetics and the American College of Obstetricians and Gynecologists; all women considering pregnancy should be offered carrier testing.

• #27 Pneumonia and Spinal Muscular Atrophy (SMA): How To Lower Your Risk | mySMAteam

  https://www.mysmateam.com/resources/pneumonia-and-sma-how-to-lower-your-risk

  Some steps you can take to help prevent viral or bacterial pneumonia with SMA include: Receiving necessary vaccines, Practicing proper hand hygiene, Asking others to help avoid illnesses, Avoiding sharing utensils, Treating your SMA, Getting medical help as soon as possible. […] In general, research suggests that flu and pneumococcal (pneumonia) vaccines can reduce the chance of severe illness for people with SMA. You should always talk to your doctor about which vaccines you should receive, given the specifics of your particular situation. […] If you feel sick or like you are not breathing well, get medical help as quickly as you can. Fast intervention can make a huge difference in whether you develop pneumonia or, if you do, how severe the infection becomes and how quickly you recover.

• #28 Guide | Physical Therapy Guide to Spinal Muscular Atrophy | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-spinal-muscular-atrophy

  Physical therapists help children and adults with SMA develop muscle strength. […] Early treatment with medicines and physical therapy at or shortly after diagnosis may greatly change the course of the disease and improve outcomes. […] A simple blood test can tell whether a person carries the SMA gene. […] Excellent prenatal care is important for all pregnant women and their babies. A test during pregnancy can find out if the baby has SMA. If doctors discover SMA during pregnancy, physical therapists and other health care providers can lessen problems that can occur after birth such as: Developmental delay, Difficulty with feeding, Abnormal posture and scoliosis, Loss of joint range of motion, Limited ability to move, Breathing problems. […] Your physical therapist is ready to help ensure that you or your child can live to the fullest extent possible. Recently, several medicines have advanced treatment and improved the lives of people with SMA. Newborn screening for SMA occurs in many states. Improved outcomes and potential also have led to changes in physical therapy recommendations (see Standard of Care Documents of 2018).

• #29 Spinal Muscular Atrophy (SMA) Care Guidelines

  https://www.togetherinsma.com/en_us/home/sma-care/care-guidelines.html

  The guidelines promote a multidisciplinary approach as a key element in the care of individuals with SMA, and recommend that a wide-ranging team of medical experts be assembled as soon as possible. […] Experts recommend that individualized care plans be developed in collaboration with a multidisciplinary care team (neuromuscular and respiratory) and a healthcare provider who is experienced with SMA and aware of the potential issues that may arise. […] These centers specializing in SMA can provide proactive and coordinated care, including: […] Collaboration and sharing of information among physicians that allows more strategic, coordinated care planning.

• #30 Spinal Muscular Atrophy (SMA) | Rady Children’s Hospital

  https://www.rchsd.org/health-article/spinal-muscular-atrophy-sma/

  Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). […] There are four types of SMA. Some show up earlier and are more severe than others. All types of SMA need ongoing treatment by a medical care team. Theres no cure for SMA, but treatments can help children with SMA live a better life. […] Although theres no cure for SMA, these treatments can help kids who have it: Nusinersen (or Spinraza), a new treatment for SMA that was approved in 2016. This medicine increases the amount of protein the body needs from the missing SMN1 gene. It works by making the back-up gene, the SMN2 gene, look more like the SMN1 gene and produce the needed protein. […] Research shows that kids with SMA do best with a team approach to their care. Parents, doctors, nurses, therapists, counselors, and a dietitian are all important members of the team. This approach and recent medical advances have improved the outlook for kids with SMA.

• #31 Spinal Muscular Atrophy in Children | Phoenix Children’s Hospital

  https://phoenixchildrens.org/specialties-conditions/spinal-muscular-atrophy-children

  Your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk for SMA in a future pregnancy. […] SMA has no cure. One new treatment can result in improved motor function. The other goals of treatment are to treat breathing and nutrition problems. […] Your child may be able to try new SMA treatments that are still being tested in clinical trials. Talk with your childs healthcare provider to find out if there are any clinical trials you should consider.

• #32 Spinal Muscular Atrophy (SMA) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/spinal-muscular-atrophy/

  Early diagnosis is essential so treatment can start early. […] If started early enough, treatment may prevent or minimize the muscle weakness SMA can cause. […] Starting therapy soon after diagnosis is key to the best outcomes for your child. […] Medicines for SMA help slow down or even stop the progression of SMA. […] Seattle Childrens was the first hospital in Washington state to offer a gene replacement therapy called onasemnogene abeparvovec-xioi (Zolgensma) for SMA. […] Our active clinical trials program means your child may have the chance to receive promising new therapies in a research study that matches their specific situation.

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