Spinal Muscular Atrophy
Description
Diagnosis Coding
G12.0, spinal muscular atrophy, type I; Werdnig-Hoffman
G12.1, other inherited spinal muscular atrophy
G12.9, spinal muscular atrophy, unspecified
ICD-10 for Spinal Muscular Atrophy and Related Syndromes provides further coding details.
Description
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Spinal muscular atrophy (SMA) is an autosomal recessive disorder that causes decreased survival of the anterior horn cells in the spinal cord (lower motor neurons), which innervate voluntary muscles. This results in progressive muscle atrophy and weakness. As more is learned about SMA, it is becoming clear that motor neurons are not the only part of the body affected, and SMA may actually be a multi-system disorder. [Shanmugarajan: 2007] [Hamilton: 2013] SMA is traditionally classified by age of onset and severity. Classification by maximal motor function (non-sitters, sitters, and walkers) may correlate with clinical care needs better than the traditional classifications. [Wang: 2007] Children with type I SMA never achieve independent sitting. Children with type II sit but do not walk, and those with type III ambulate independently, if only for a brief time. |
Prevalence
SMA is one of the most common recessively inherited disorders (second only to cystic fibrosis) and occurs in about 1:6,000 births. [Jones: 2015] Approximately 1:40 people are genetic carriers for type I SMA. [Cusin: 2003] SMA type I is the leading inherited cause of infant mortality.Genetics
Missing or defective motor neuron survival protein (SMN protein) results in SMA. This protein is coded for by the SMN1 gene, which is located on the long arm of chromosome 5. Most cases of SMA contain deletions in various combinations of exons 7 and/or 8. SMN2 is a pseudogene, similar to SMN1, but not functional. SMN2 is also located on chromosome 5q and may be present in multiple copies. Copy number of the SMN 2 gene appears to control severity of SMA by a complex mechanism allowing some production of the survival motor neuron protein from the defective SMN2 gene. The SMN protein complex appears to be involved in the biogenesis of specific ribonucleoproteins that control regulation of gene transcription. [Kolb: 2007] [Sumner: 2007] For further details, please see Genetics of Spinal Muscular Atrophy.Prognosis
Prognosis is variable and depends on SMA subtype. Most children with type I SMA who do not receive ventilatory support die in early infancy. [Cobben: 2008] [Bach: 2007] Families of children with type I SMA are increasingly choosing ventilation (either invasive or non-invasive) as palliative treatment. Ventilation results in prolonged survival, but most children with type I SMA succumb to respiratory failure in the setting of infection before the end of their second year. [Finkel: 2014] Individuals with type II and type III SMA can have a normal life span, but experience significant disability and respiratory or other complications. Anticipatory care that includes careful attention to respiratory, nutritional, and orthopedic issues can significantly prolong survival. Although Cochrane studies have concluded that there are no statistically proven treatments for types I, II, or III SMA [Wadman: 2012] [Wadman: 2012], treatments targeting genetic mechanisms are prompting new hope that approved treatments will be forthcoming. [Wertz: 2016] [Faravelli: 2015]Roles Of The Medical Home
Optimally, care of children with SMA should take place in a multi-disciplinary clinic (see all Muscular Dystrophy Clinics services providers (3) in our database). If one is not available, it is essential that the medical home helps families organize specialty care, remains watchful for changes in function, understands current treatment for acute illnesses, and advocates throughout the life of the child. Children with SMA will need surveillance of respiratory adequacy (awake and asleep), GI/nutritional balance, musculoskeletal status, dental hygiene, and individual and family functioning.
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Left image: Five-month old girl with SMA type I Middle image: Boy with SMA type II with turtle shell and ankle-foot orthoses Right image: Boy with SMA type III being checked for hip weakness Photo permissions on file |
Practice Guidelines
Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A.
Consensus statement for standard of care in spinal muscular atrophy.
J Child Neurol.
2007;22(8):1027-49.
PubMed abstract / Full Text
Helpful Articles
PubMed search for spinal muscular atrophy in children, last 2 years.
Kolb SJ, Kissel JT.
Spinal Muscular Atrophy.
Neurol Clin.
2015;33(4):831-46.
PubMed abstract / Full Text
Tisdale S, Pellizzoni L.
Disease mechanisms and therapeutic approaches in spinal muscular atrophy.
J Neurosci.
2015;35(23):8691-700.
PubMed abstract / Full Text
Darras BT.
Spinal muscular atrophies.
Pediatr Clin North Am.
2015;62(3):743-66.
PubMed abstract
Viollet L, Melki J.
Spinal muscular atrophies.
Handb Clin Neurol.
2013;113:1395-411.
PubMed abstract
García-Salido A, de Paso-Mora MG, Monleón-Luque M, Martino-Alba R.
Palliative care in children with spinal muscular atrophy type I: What do they need?.
Palliat Support Care.
2015;13(2):313-7.
PubMed abstract
Lin CW, Kalb SJ, Yeh WS.
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review.
Pediatr Neurol.
2015;53(4):293-300.
PubMed abstract
Clinical Assessment
Overview
Clinicians should suspect SMA in infants and children with proximal muscle weakness (shoulder and hip girdles) and absent or very reduced deep tendon reflexes. In young infants, respiratory difficulties (e.g., bell-shaped chest or weak cough or cry) and feeding problems may be present from very early in the course.Pearls & Alerts
Address possibility of respiratory failureInfants with type I SMA are susceptible to respiratory failure due to infection or aspiration. Addressing this possibility early with the family and implementing proactive measures (e.g., non-invasive ventilation, cough assist, and G-tube placement) can prevent emergency situations. Frequent pneumonias or respiratory illnesses may signal impending respiratory failure or aspiration.
Screening
Of Family Members
Siblings of a person with SMA have a 1:4 chance of being born with the condition and a 2:4 chance of being a carrier. Carrier testing is available for adults and siblings over age 18. [Carré: 2016] Although testing at-risk younger siblings who are asymptomatic for SMA is controversial, many experts feel that early identification of children with SMA may improve clinical outcome, so such testing is recommended if desired by the family. [Wang: 2007] The American College of Medical Genetics endorses offering SMN1 gene testing for all couples considering pregnancy or early in pregnancy. [Prior: 2008]Presentations
Presentations and clinical characteristics vary by SMA subtypes.- Type I SMA (Werdnig-Hoffman) presents near birth. Children never learn to sit or walk and have severe respiratory and swallowing problems, including difficulty handling oral secretions, and a significantly shortened life span. Other features include poor head control, a bell-shaped chest, weak cry and cough, tongue atrophy and fasciculation, and paradoxical breathing.
- Type II SMA presents later in the first year of life or up to about 2 years of age. Children usually learn to sit, but do not walk. Fine tremor-like movements in the hands and fingers may be noted from early in the course. As weakness progresses, children often have respiratory and swallowing problems, including difficulty gaining weight due to bulbar muscle weakness, weak cough, and night-time hypoventilation. Swallowing problems and difficulties opening the jaw widely have been shown to contribute to malnutrition. [Messina: 2008] Joint contractures and scoliosis develop over time in nearly all affected children and warrant proactive intervention.
- Type III SMA (Kugelberg-Welander) is much more variable in onset than types I and II, but usually presents in childhood or early adolescence. Children can sit and walk (although some may lose this ability over time). As with type II SMA, children with type III SMA may have fine tremor-like movements in the hands and fingers. Quadriceps atrophy may be pronounced. Children with type III SMA may have fewer problems with respiratory function and swallowing than children with type I or II SMA. Scoliosis, contractures, and joint pain are often noted in older children.
- Type 0 SMA presents before birth with decreased fetal movement noted around 30 weeks of age. Newborns are severely hypotonic at birth with congenital contractures, swallowing problems, and respiratory failure.
- Type IV SMA presents in adults and will not be discussed further here.
Diagnostic Criteria
Diagnosis is made by genetic testing for the common deletion of exon 7 of the SMN1 gene in children with appropriate clinical features. This testing is inexpensive and readily available; laboratories offering testing can be found at Testing for SMA (GTR).Identification of the copy number of the SMN2 gene assists in prognosis and is becoming a standard feature of genetic testing for SMA. While most patients will have the common deletion of exon 7, about 5% of children who present with SMA have negative genetic testing due to presence of a deletion on 1 allele and a point mutation on the other. Clinical suspicion and electromyography (EMG) play important roles in diagnosis in these cases.
Differential Diagnosis
SMA is usually readily identified by clinical features and confirmed by genetic testing. Differential diagnoses for a child with newly presenting progressive muscle weakness are described below.Infant botulism occurs in children up to 12 months of age. Symptoms start with constipation in a previously normal baby and are followed by decreased facial expression, poor swallowing, a weak cry, and decreased movement. Over time, the course is more acute than SMA. Diagnosis is made by recognition of clinical features and demonstration of botulinum toxin in the infant's stool. EMG can help to exclude other diagnoses.
Neuropathies are a wide spectrum of syndromes with various time courses. Sensory nerves are usually involved. Family history is often positive (e.g., Charcot-Marie-Tooth disease or hereditary motor sensory neuropathy). Acquired polyneuropathies, such as Guillain-Barre syndrome, have a rapid onset over a few days to a week. These are exceedingly rare in children under 2 years old. Diagnosis is confirmed by EMG and/or tests showing elevated cerebrospinal fluid (CSF) protein.
Metabolic myopathy (e.g., mitochondrial myopathy, Pompe disease) is much less common than SMA, but early features can be a clinically similar. Infants with Pompe disease have severe progressive cardiac dysfunction not seen in SMA.
Duchenne muscular dystrophy occurs in boys only. In this condition, calves are large, creatine kinase (CK) is extremely high, and developmental delay is often present. It is diagnosed by genetic testing for mutations in the DMD gene.
X-linked SMA and SMA with respiratory distress (SMARD) may appear clinically similar to SMA, but they have different genetic etiologies. SMARD1 presents as distal (not proximal) muscle weakness, with foot deformities as well as respiratory failure that often occurs suddenly. This condition is due to mutations in the IGHMBP2 gene on chromosome 11q13.3, which encodes the immunoglobulin micro-binding protein 2. [Kaindl: 2008] Infants with X-linked SMA may have a family history showing X-linked inheritance and will have negative SMN1 testing. An increasing number of new genes are being associated with these phenotypes and suspicion should prompt referral to a sub-specialty clinic for assessment.
Congenital myopathy presents with non-progressive weakness and is diagnosed by muscle biopsy.
History & Examination
Family History
SMA is an autosomal recessive disorder usually occurring with no family history; yet, providers should ask about infant and childhood deaths and consanguinity.Pregnancy Or Perinatal History
Although there is no specific pregnancy history, sometimes mothers of children with type I SMA will report decreased fetal movement in late pregnancy. Children with type 0 and type I SMA may also have arthrogryposis at birth, difficulties with early feeding, and bell-shaped chests.Current And Past Medical History
Nutrition/GI: Has weight gain been adequate? Ask about GI issues such as reflux, stomach pain, and constipation. Children with any neuromuscular disorder, including SMA, are osteopenic. Is calcium and vitamin D intake adequate? Any fractures? [Khatri: 2008]Respiratory: Ask about breathing problems while awake, including while eating, for infants. Ask about history of pneumonia, strength of cough, reactive airway disease, recent pulmonary testing (oximetry), use of respiratory support (noninvasive respiratory support such as CPAP and BiPAP and nighttime or continuous ventilation), and use of a cough assist machine. Ask also about sleep, results of previous sleep studies, snoring as evidence of obstructive sleep apnea and hypoventilation, frequency of night awaking, daytime sleepiness, and morning headaches. Check immunization history, including pneumococcal and flu vaccines.
Swallowing problems: Ask about coughing or choking while eating and drinking (especially thin fluids) and strength of cough. Ask if the family has a suction machine at home.
Musculoskeletal: Ask about recent change in muscle strength, fatigability, and functional abilities. Ask about fit and maintenance of the wheelchair, stander, or other equipment. Ask if the family has a license plate or placard for individuals with disabilities.
Orthopedic: Ask about orthotics use, joint pain, range of motion, and history of fractures.
HEENT: Ask about chronic ear infections.
Dental: Ask about dental history and the ability to open and close jaw.
Developmental And Educational Progress
Early motor milestones, such as development of head control, will often be delayed. Babies may lie in the classic frog position when supine. Speech and language skills will not be delayed. Developmental testing will show profound delays in gross motor abilities, but cognitive abilities are spared. Measures of daily functioning, such as the Pediatric Evaluation of Disability Inventory (PEDI) (available for a fee), can help evaluate the child's functional abilities over time and are often available from the child's therapists. Ideally, these assessments should be part of the medical home record. Families should sign releases of information to obtain these records or bring copies of them to their appointments. A quick look at changes in the functional abilities of the child will help guide assessment of progression.Social And Family Functioning
Ask about family and community supports, access to resources, and any social issues for the child and family. Are necessary accommodations being made at school? Do the parents have anyone to stay with their child while they take a break? If the child with SMA is having difficulty with breathing, whether unaided or using BiPAP, how is that impacting the family, and what are their feelings concerning the next step? Is there a plan for an acute respiratory illness?Physical Exam
General
Babies with SMA are often alert and interactive, and children with SMA are often bright and quite social.Growth Parameters
Wt | Ht | BMI: Due to feeding problems, infants with SMA may be underweight or overweight (particularly when using a G-tube to augment feedings). Careful attention to feeding and growth patterns is important. With decreased muscle mass, a relatively low weight for length may be ideal. Growth charts for normal children may be inappropriate.Skin
Is there evidence of breakdown, cool extremities, mottling of skin, or yeast infection (tongue, body creases)?Mouth/Teeth
Check for bad breath, dental caries, and drooling that may be caused by swallowing problems.Chest
The chest wall may appear bell-shaped. Listen to lungs and observe for evidence of breathing difficulties. Check respiratory rate and look for paradoxical abdominal/chest wall movements. Observe cough or cry if possible. Consider spot oximetry, peak flow, and forced vital capacity measures. Measure chest circumference at the nipple line and follow growth. Chest and head circumference should be fairly equal in the first year. If the chest isn’t growing, the child is at a higher risk of respiratory compromise.Testing
Laboratory Testing
No routine testing is needed. Consider labs to evaluate for nutritional inadequacies, carnitine deficiency, hypercalcemia, and iron deficiency anemia. A urinalysis will detect urinary tract infection, etc. In the setting of illness, check for acidosis or electrolyte disturbances. Creatinine levels are normally low. Elevated CK levels are usually considered in those with muscle disorders such as Duchenne muscular dystrophy; however, CK levels can be elevated in patients with SMA undergoing active denervation.Imaging
Consider a video swallow study to look for aspiration or for children who take a long time to eat, have poor weight gain, or swallowing problems. Since the study is performed with a speech therapist present, strategies for safer feeding (e.g., thickening fluids) may be explored. A chest X-ray will help diagnose chronic aspiration or acute pneumonia; spine and hip X-rays will help diagnose scoliosis or hip dislocation.Genetic Testing
Definitive diagnosis is based on molecular genetic testing for SMN1 mutations and SMN2 copy number. Results are usually available within a few weeks. A small percentage of children with SMA will be negative for the common exon 7 deletion, but when more detailed testing is performed, the child will have SMA with a mutation not included in the routine genetic testing. See Testing for SMA (GTR) and the Medical Home Portal page about Genetics of Spinal Muscular Atrophy.Other Testing
Other possible testing:- Electromyography (EMG) can indicate probable SMA, in which case, genetic testing should follow.
- Muscle biopsy is performed by some clinicians for various reasons. A biopsy consistent with SMA should still be followed by genetic testing, which gives a definitive diagnosis.
- Pulmonary function tests and sleep studies are used to evaluate respiratory status as needed.
- Nutritional assessments are helpful for evaluation of children who are underweight or overweight.
- DEXA scan are performed if the child has a history of fractures or, as a baseline if the child has been immobile and confined to a wheelchair for an extended period, especially if the child is on valproic acid or proton pump inhibitors.
Subspecialist Collaborations & Other Resources
When available, an SMA-specific clinic for children is preferred for evaluation and management. Depending on the location, additional involvement of sub-specialists, such as those in physical medicine & rehabilitation and pulmonology, can be helpful.
Muscular Dystrophy Clinics (see Services below for relevant providers)
Multidisciplinary care for children with SMA and other neuromuscular disorders is often available through clinics sponsored by the Muscular Dystrophy Association. In partnership with the primary care team, these clinics can coordinate anticipatory care and subspecialty referrals.
Pediatric Genetics (see Services below for relevant providers)
Genetics and genetic counseling may be available in an SMA-specific or neuromuscular clinic. If not, an initial visit for genetic testing and discussion of test results, and periodic visits to address new issues, may be helpful.
Pediatric Pulmonology (see Services below for relevant providers)
Referral is particularly important for children with type 0 and type I SMA because of the risk for respiratory compromise. Night-time ventilation is often affected first; deterioration may be subtle. Early pulmonology consultation is recommended, even for children with SMA that are doing well.
Pediatric Gastroenterology (see Services below for relevant providers)
Referral may be helpful for evaluation and management of eating and nutrition problems. Swallowing difficulty, reflux, constipation, or failure to gain weight appropriately should also prompt consideration of referral.
Pediatric Orthopedics (see Services below for relevant providers)
Most children with SMA of any type will benefit from periodic referrals for evaluation and management of musculoskeletal complications. If the child with SMA has been born with arthrogryposis, early involvement is critical.
Pediatric Physical Medicine & Rehabilitation (see Services below for relevant providers)
Referral can help optimize mobility and the activities of daily living, and it usually includes physical, occupational, and speech therapy.
Pediatric Otolaryngology (see Services below for relevant providers)
Consider a referral if obstructive sleep apnea is a concern.
Treatment & Management
Pearls & Alerts
Expectant management during hospital visits improves outcomesExpectant management includes increased nutritional management and attention to respiratory status before and after surgery and during acute hospital visits. Temporary supplementation with nasogastric tubes or nasojejunal tubes, or peripheral or total parental nutrition, may be helpful.
Written care plans facilitate emergency careEmergency room visits for families of children with SMA, as for any child with a complex condition, are challenging because of the need for families to detail their histories and preferences, as well as the reason for their visit. Plans for what to do in case of respiratory failure should be made and revised at non-acute medical home visits. Provide families with documentation so their resuscitation desires can be shared with other clinicians.
Early post-operative ambulation helps maintain strengthRequired inactivity following major surgery (e.g., for scoliosis or hip dislocation) may precipitate the loss of ambulation. Early re-institution of ambulation in these settings can help significantly in maintaining strength.
How should common problems be managed differently in children with Spinal Muscular Atrophy ?
Growth Or Weight Gain
Standard growth charts often are not appropriate for children with SMA. Children who are following “normal” growth curves may be functionally obese and at risk for insulin resistance and complications of a metabolic syndrome. Muscle atrophy complicates management of nutritional issues; close monitoring is essential. Children with type I SMA have early dysphagia and early placement of G-tube with Nissen fundoplication is often necessary to prevent aspiration and pneumonia.Development (cognitive, motor, language, social-emotional)
Cognitive and emotional development is normal in children with SMA. While language is normal from a neurologic perspective, communication, especially with type I SMA, can be difficult due to weakness. Children may need adaptive devices to assist communication.Viral Infections
Due to weakness of respiratory muscles and poor cough, children with SMA are at risk for significant upper respiratory infections. Families should be encouraged to take appropriate precautions (e.g., handwashing and limiting exposure to sick individuals). Patients should receive annual flu vaccine; RSV prophylaxis is appropriate in infants with type I SMA.Bacterial Infections
Children with SMA are at risk for bacterial pneumonia as a primary feature or as a complication of viral upper respiratory infection or aspiration. Age-appropriate pneumococcal vaccination is recommended. Early use of non-invasive ventilation and Cough Assist are appropriate preventive measures.Systems
Neurology
Subspecialist Collaborations & Other Resources
Muscular Dystrophy Clinics (see Services below for relevant providers)
Muscular Dystrophy Association (MDA) clinics are available in many locations throughout the United States and Canada. These clinics specialize in managing people with neuromuscular disorders and offer visits at no cost to the patient. Clinical trials may also be available in these clinics.
Pediatric Neurology (see Services below for relevant providers)
In areas without specialty clinics, pediatric neurologists with expertise in neuromuscular disorders should be involved in the management of children with SMA.
Respiratory
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Pulmonary referral should occur soon after diagnosis for both non-sitters and sitters. General guidelines for respiratory
care in type I and many type II SMA patients includes airway clearance techniques, such as Cough Assist, and nocturnal non-invasive
ventilation, such as BiPAP. [Schroth: 2009]
Photo, left: Infant with SMA type I using a BiPAP device (photo permission on file) |
Consider a sleep study for identification of obstructive sleep apnea and central hypoventilation. These problems may occur early, before the child has obvious daytime problems. Nighttime BiPAP is usually necessary when the vital capacity is less than 40% of the predicted value. BiPAP can also be used in daytime during periods of increased need, such as with a respiratory illness or following surgery. The Medical Home Portal's CPAP and Bilevel PAP topic provides more information about indications for use and follow-up care.
Optimal preventive treatment includes nutritional optimization, especially with surgeries and illnesses. For some children, breath stacking methods and incentive spirometry can be taught, usually by staff at the pulmonology clinic. Breath stacking involves repetitions of taking a breath and holding it. Daily practice can be helpful for children who are losing lung capacity, but adherence is difficult.
If the child has a weak cough, percussion and postural drainage should be initiated; management of secretions is further improved by use of a cough-assist device. [Fauroux: 2008] Respiratory secretions should be managed with the help of an ENT if necessary. Consider medications to reduce secretions, botulinum toxin injections, and salivary gland ligation for children who can't manage secretions. Swallowing problems should be managed optimally, for example with thickened liquids and G-tube feeds; Nissen fundoplication may be helpful when reflux is present.
Ensure that immunizations, especially pneumococcal and yearly flu vaccines, are up to date. RSV prophylaxis should be given to non-sitters and most sitters. Respiratory infections and symptoms of reactive airway disease should be treated early and aggressively. If hospitalization is necessary for acute, severe respiratory illness, consider the use of non-invasive ventilation; children with SMA often have difficulty weaning from a ventilator. Supplemental oxygen without mechanical ventilation should be used with care as it may decrease respiratory drive, leading to hypercarbia and atelectasis.
Subspecialist Collaborations & Other Resources
Pediatric Pulmonology (see Services below for relevant providers)
Pulmonology should manage most children with SMA concurrently with the medical home. Children should be referred at diagnosis and periodically for management.
Pediatric Sleep Medicine (see Services below for relevant providers)
Children with SMA may need breathing assistance during sleep before they demonstrate problems while awake; refer for sleep evaluations and management as needed.
Pediatric Otolaryngology (see Services below for relevant providers)
Consider referral for drooling, swallowing problems, or sleep apnea.
Nutrition/Growth/Bone
Poor weight gain is common and often attributed to the decreased intake of food and the increased energy demands required for the work of breathing. Registered dieticians should be involved when infants are grossly underweight. Increasing calories may involve Power Packing, pureeing foods, or gastrostomy feeds (either exclusively or in addition to oral feeding). Although the decision to proceed with G-tube placement can be difficult, prolonged feeding time may make the logistics of caring for non-sitters with SMA very difficult. Families may prefer to start with a nasogastric tube before proceeding with G-tube placement. For an introduction to various kinds of feeding tubes and an overview of the role of the medical home in feeding tube care, see Feeding Tubes and Gastrostomies.
Excessive weight gain can also occur in sitters and walkers and can make mobility even more difficult; preventing excessive weight gain is easier than losing weight. Nutrition experts should be involved when a trend toward becoming overweight is first noted.
Subspecialist Collaborations & Other Resources
Nutrition Assessment Services (see Services below for relevant providers)
Referral may be helpful in underweight and overweight children with SMA.
Pediatric Endocrinology (see Services below for relevant providers)
Consider referral for children who have low bone mineral density on Dexascan and have a history with fractures.
Musculoskeletal
Devices for upright positioning are prescribed for non-sitters to help with lung function, gastrointestinal function, and developmental goals. For sitters and non-sitters, standing equipment should be prescribed and used for a goal of 1 to 2 hours a day. This can help with lung and gastrointestinal function, decrease fracture risk, and delay scoliosis and contracture development. Orthotics and walking equipment should be provided, even if functional walking for all activities isn't a practical goal. Prescribe scooters, wheelchairs (manual and/or powered), or other equipment, as necessary, for all children with SMA to allow participation in age-appropriate community activities. To avoid progression of contractures, implement daily range of motion exercises and early return to weight bearing activities after surgeries.
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Scoliosis develops in more than half of children with SMA, and many of these children will require surgery. Optimal timing
for surgery will depend on the respiratory status, progression of the curve, and growth of the child. Bracing is sometimes
used to postpone surgery as long as possible and allow more linear growth before fusion; however, bracing can compromise respiratory
function and should be used with caution, particularly in weaker children. Respiratory function should be monitored routinely;
scoliosis surgery should be performed before respiratory function significantly declines. Surgery is performed before or when
the scoliosis curve has reached approximately 40 degrees. Problems with surgery include blood loss, difficulty weaning the
child from the ventilator, and prolonged rehabilitation time. Photo, left: Boy with SMA type III being checked for scoliosis (photo permission on file) |
Hip subluxation and dislocation are common problems for non-sitters, sitters, and, occasionally, walkers. Imaging of the hip should be performed biannually or annually. Hip dislocation can make sitting balance difficult, interfere with already compromised respiratory function, and lead to chronic pain. The risks and benefits of surgery for hip subluxation should be weighed by the family who is consulting with an experienced orthopedic surgeon. When surgery is being considered for walkers, be aware that the period of inactivity may lead to contractures or changes in a functional walking patterns.
Subspecialist Collaborations & Other Resources
Pediatric Orthopedics (see Services below for relevant providers)
Refer early for evaluation and management of hip dislocation, scoliosis, and joint contractures; ideally, the sub-specialist will have experience treating children with SMA.
Hospitals (see Services below for relevant providers)
Shriners Hospitals offer orthopedic care to children with SMA. For a map of locations, see Shriners Hospitals for Children.
Pediatric Physical Medicine & Rehabilitation (see Services below for relevant providers)
Refer to optimize functional abilities, including activities of daily living and mobility.
Physical Therapy (see Services below for relevant providers)
Consider early referral to assist with range of motion, strengthening, mobility equipment, and prevention of contractures.
Early Intervention for Children with Disabilities/Delays (see Services below for relevant providers)
Young children are usually eligible for different types of therapies (physical, occupational, speech, etc.) through Early Intervention or programs administered at the local community level.
Nose/Throat/Mouth/Swallowing
Subspecialist Collaborations & Other Resources
Pediatric Gastroenterology (see Services below for relevant providers)
Referral may be helpful for children who are underweight, aspirating, or who are having difficulty swallowing. Placement of a G-tube may be beneficial.
General Pediatric Surgery (see Services below for relevant providers)
Referral may be helpful for G-tube insertion, especially if a fundoplication is also being considered.
Gastro-Intestinal & Bowel Function
Subspecialist Collaborations & Other Resources
Pediatric Gastroenterology (see Services below for relevant providers)
Consider referral for children who do not respond to typical management.
General Pediatric Surgery (see Services below for relevant providers)
Depending on local expertise, children requiring G-tube placement may be referred.
Developmental - Behavioral Pediatrics (see Services below for relevant providers)
Depending on local expertise, behavioral and medical management of constipation may benefit from referral.
Dental
Subspecialist Collaborations & Other Resources
Pediatric Dentistry (see Services below for relevant providers)
Children with SMA should be referred early and visit at least every 6 months for ongoing care.
General Dentistry (see Services below for relevant providers)
The dentists in this list have expressed interest and experience in treating CSHCN.
Recreation & Leisure
Subspecialist Collaborations & Other Resources
Recreational Activities/Sports (see Services below for relevant providers)
Encourage families to seek out recreational outlets for their child.
Funding & Access to Care
Family
Appropriate care for children with SMA encompasses many options, and open discussions of alternatives are very helpful for families. Some families will choose to forego diagnostic and therapeutic interventions that they feel are invasive, whereas others will choose to proceed aggressively with interventions that might prolong life. All caregivers need to understand the family’s preferences. Discussions are best accomplished over time and in non-acute settings, rather than in the midst of an emergency room visit for pneumonia requiring intubation, for example. Preventive management, such as early implementation of non-invasive ventilation, will help avoid crises. The decision to aggressively manage SMA is a dynamic one that can be reconsidered whenever appropriate. Offer pediatric hospice in situations where aggressive intervention is not chosen. A Family Guide to the Consensus Statement for Standard of SMA Care (ICC) (
267 KB) can assist families in understanding care possibilities.
Subspecialist Collaborations & Other Resources
Hospice & Palliative Care (see Services below for relevant providers)
Hospice services that have expertise in the care of children should be involved when necessary.
Wish Foundations (see Services below for relevant providers)
Refer, as appropriate, when children are between 2 1/2 and 18 years of age.
Pediatric Genetics (see Services below for relevant providers)
Families can benefit from periodic visits to review issues and address new questions (e.g., progress in genetic studies, options for prenatal and preimplantation diagnosis to help with reproductive planning, or risks for siblings of a child with SMA).
Questions from Clinicians
What are the earliest signs of SMA?
Signs and symptoms will differ depending on a patient’s age and SMA subtype. Classically, children present with hypotonia, proximal weakness (shoulders and hips), feeding difficulties, and/or complications of respiratory insufficiency. Early signs of weakness include:
- Abdominal breathing or accessory muscle use
- A feeling of “slipping through hands” when held suspended by examiner under armpits
- Inability to voluntarily flex neck when supine or head lag when pulled to sit
- Difficulty rising from floor (including Gowers maneuver, full or modified)
What are the most pertinent issues to focus on during a routine well-child visit for a patient with SMA?
Ongoing proactive assessment of sitting status, joint range of motion, feeding ability, weight, and respiratory status can enhance quality of life and life span for children with SMA. Asking about family and community supports and access to resources that may affect the care of a child with SMA is also critical.
How does SMA affect growth and development?
Children with SMA are at risk for nutritional deficiencies and being underweight. Non-sitters, in particular, are commonly underweight secondary to decreased intake and the increased energy expenditure for the work of breathing. Standard weight charts are not applicable due to reduced muscle mass despite caloric supplementation. Children with SMA that are following the “normal” growth curves may be functionally obese and at risk for complications of metabolic syndrome.
Issues Related to Spinal Muscular Atrophy
Genetics
Genetics of Spinal Muscular AtrophyResources
Information for Clinicians
Medical Issues (Cure SMA)
Excellent resources covering respiratory, orthopedic, nutrition, and rehabilitation needs for SMA patients.
Acute Respiratory Illness Care Guidelines (Cure SMA) ( 32 KB)
Two-page guideline for care of the intubated and non-intubated child with SMA during periods of acute respiratory illness.
Nutritional Care Guidelines (Cure SMA) ( 68 KB)
Proactive nutritional management tips for children with SMA.
Neuromuscular Program (University of Utah)
Diagnostic and management information about SMA and other disorders.
Child Muscle Weakness Organization
Information and videos to help increase clinicians’ awareness of peripheral neuromuscular disease as a cause of developmental
delay in young children and the early symptoms of neuromuscular disorders; National Task Force for the Early Identification
of Childhood Neuromuscular Disorders.
Spinal Muscular Atrophy (GeneReviews)
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information;
U.S. National Library of Medicine.
SMA Type I (OMIM)
Provides information about genetics, diagnosis, management, and studies; Online Mendelian Inheritance in Man, hosted by Johns
Hopkins University.
SMA Type II (OMIM)
Provides information about genetics, diagnosis, management, and studies; Online Mendelian Inheritance in Man, hosted by Johns
Hopkins University.
SMA Type III (OMIM)
Provides information about genetics, diagnosis, management, and studies; Online Mendelian Inheritance in Man, hosted by Johns
Hopkins University.
Helpful Articles
PubMed search for spinal muscular atrophy in children, last 2 years.
Darras BT.
Spinal muscular atrophies.
Pediatr Clin North Am.
2015;62(3):743-66.
PubMed abstract
García-Salido A, de Paso-Mora MG, Monleón-Luque M, Martino-Alba R.
Palliative care in children with spinal muscular atrophy type I: What do they need?.
Palliat Support Care.
2015;13(2):313-7.
PubMed abstract
Kolb SJ, Kissel JT.
Spinal Muscular Atrophy.
Neurol Clin.
2015;33(4):831-46.
PubMed abstract / Full Text
Lin CW, Kalb SJ, Yeh WS.
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review.
Pediatr Neurol.
2015;53(4):293-300.
PubMed abstract
Tisdale S, Pellizzoni L.
Disease mechanisms and therapeutic approaches in spinal muscular atrophy.
J Neurosci.
2015;35(23):8691-700.
PubMed abstract / Full Text
Viollet L, Melki J.
Spinal muscular atrophies.
Handb Clin Neurol.
2013;113:1395-411.
PubMed abstract
Clinical Tools
Assessment Tools/Scales
Pediatric Evaluation of Disability Inventory (PEDI)
Helps evaluate functional disabilities of children ages 6 months to 7 years old; completion time of 45-60 minutes; manual
scoring; purchase required.
Patient Education & Instructions
Living with SMA (Cure SMA)
Excellent resource for families dealing with the day-to-day issues related to SMA. Contains information about standards of
care, school, home, equipment needs, and community resources.
Information & Support for Families
Family Diagnosis Page
Information on the Web
A Family Guide to the Consensus Statement for Standard of SMA Care (ICC) ( 267 KB)
Assists families in understanding clinical care guidelines; prepared by the Patient Advisory Group of the International Coordinating
Committee for SMA Clinical Trials.
SMA Foundation
The mission of the SMA Foundation is to accelerate treatment for children with SMA. Families will find detailed information
about SMA, up-to-date information about drugs in development, and support.
Play (Cure SMA)
Tips for finding and making toys, getting involved in sports, and traveling. Care packages with toys that other families affected
by SMA have recommended based on their personal experience are available.
Spinal Muscular Atrophy (MedlinePlus)
A brief description of SMA, along with numerous links to further information; sponsored by the National Library of Medicine.
Spinal Muscular Atrophy (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.
National & Local Support
Cure SMA
Offers information about research in SMA, access to support and local chapters, and opportunities for fundraising.
Rainbow Kids Palliative Care (Primary Children's Hospital)
A consultation service available to any child who is experiencing a life-threatening illness. The program helps both the child
and family deal with feelings, symptoms, and concerns during a time that may be confusing and overwhelming.
Children's Hospice International
An organization that supports the idea that critically ill children should have access to hospice/palliative care along with
curative care from the time their life threatening illness has been diagnosed.
Fight SMA
Nonprofit organization that engages in leading scientists and policymakers to create treatments and a cure for SMA.
SMA Coalition
A coalition of SMA-focused nonprofits working toward increased awareness and help for those with SMA.
Services for Patients & Families in Montana
Assistive Technology Equipment
See all Assistive Technology Equipment services providers (10) in our database.
Camps for Children with Special Needs
See all Camps for Children with Special Needs services providers (15) in our database.
Developmental - Behavioral Pediatrics
See all Developmental - Behavioral Pediatrics services providers (6) in our database.
Early Intervention for Children with Disabilities/Delays
See all Early Intervention for Children with Disabilities/Delays services providers (22) in our database.
Muscular Dystrophy Clinics
See all Muscular Dystrophy Clinics services providers (3) in our database.
Nutrition Assessment Services
See all Nutrition Assessment Services services providers (2) in our database.
Occupational Therapy, Pediatric
See all Occupational Therapy, Pediatric services providers (32) in our database.
Pediatric Gastroenterology
See all Pediatric Gastroenterology services providers (20) in our database.
Pediatric Physical Medicine & Rehabilitation
See all Pediatric Physical Medicine & Rehabilitation services providers (5) in our database.
Recreational Activities/Sports
See all Recreational Activities/Sports services providers (13) in our database.
Social & Recreational Opportunities
See all Social & Recreational Opportunities services providers (5) in our database.
Speech - Language Pathologists
See all Speech - Language Pathologists services providers (45) in our database.
Swallow Studies
We currently have no Swallow Studies service providers listed; search our Services database for related services.
For other services related to this condition, browse our Services categories or search our database.
Bibliography
Bach JR, Saltstein K, Sinquee D, Weaver B, Komaroff E.
Long-term survival in Werdnig-Hoffmann disease.
Am J Phys Med Rehabil.
2007;86(5):339-45 quiz 346-8, 379.
PubMed abstract
Carré A, Empey C.
Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors.
J Genet Couns.
2016;25(1):32-43.
PubMed abstract
Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M.
Survival in SMA type I: a prospective analysis of 34 consecutive cases.
Neuromuscul Disord.
2008;18(7):541-4.
PubMed abstract
Cusin V, Clermont O, Gérard B, Chantereau D, Elion J.
Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling.
J Med Genet.
2003;40(4):e39.
PubMed abstract / Full Text
Darras BT.
Spinal muscular atrophies.
Pediatr Clin North Am.
2015;62(3):743-66.
PubMed abstract
Faravelli I, Nizzardo M, Comi GP, Corti S.
Spinal muscular atrophy--recent therapeutic advances for an old challenge.
Nat Rev Neurol.
2015;11(6):351-9.
PubMed abstract
Fauroux B, Guillemot N, Aubertin G, Nathan N, Labit A, Clément A, Lofaso F.
Physiologic benefits of mechanical insufflation-exsufflation in children with neuromuscular diseases.
Chest.
2008;133(1):161-8.
PubMed abstract
Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman
AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De
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Neurology.
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PubMed abstract / Full Text
García-Salido A, de Paso-Mora MG, Monleón-Luque M, Martino-Alba R.
Palliative care in children with spinal muscular atrophy type I: What do they need?.
Palliat Support Care.
2015;13(2):313-7.
PubMed abstract
Hamilton G, Gillingwater TH.
Spinal muscular atrophy: going beyond the motor neuron.
Trends Mol Med.
2013;19(1):40-50.
PubMed abstract
Jones C, Oskoui M, Zielinski D, Vinikoor L, Farwell W.
Systematic review of incidence and prevalence of spinal muscular atrophy (SMA).
European Journal of Paediatric Neurology. 2015; 19(1):oral presentation. Elservier Ltd.; http://www.sciencedirect.com/science/article/pii/S1090379815302130
Provides a summary of Spinal Muscular Atrophy incidence and prevalence worldwide.
Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
J Child Neurol.
2008;23(2):199-204.
PubMed abstract
Khatri IA, Chaudhry US, Seikaly MG, Browne RH, Iannaccone ST.
Low bone mineral density in spinal muscular atrophy.
J Clin Neuromuscul Dis.
2008;10(1):11-7.
PubMed abstract
Kolb SJ, Battle DJ, Dreyfuss G.
Molecular functions of the SMN complex.
J Child Neurol.
2007;22(8):990-4.
PubMed abstract
Kolb SJ, Kissel JT.
Spinal Muscular Atrophy.
Neurol Clin.
2015;33(4):831-46.
PubMed abstract / Full Text
Lin CW, Kalb SJ, Yeh WS.
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review.
Pediatr Neurol.
2015;53(4):293-300.
PubMed abstract
Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Bertini E, Mercuri E.
Feeding problems and malnutrition in spinal muscular atrophy type II.
Neuromuscul Disord.
2008;18(5):389-93.
PubMed abstract
Prior TW.
Carrier screening for spinal muscular atrophy.
Genet Med.
2008;10(11):840-2.
PubMed abstract
Schroth MK.
Special considerations in the respiratory management of spinal muscular atrophy.
Pediatrics.
2009;123 Suppl 4:S245-9.
PubMed abstract
Shanmugarajan S, Swoboda KJ, Iannaccone ST, Ries WL, Maria BL, Reddy SV.
Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling.
J Child Neurol.
2007;22(8):967-73.
PubMed abstract
Sumner CJ.
Molecular mechanisms of spinal muscular atrophy.
J Child Neurol.
2007;22(8):979-89.
PubMed abstract
Tisdale S, Pellizzoni L.
Disease mechanisms and therapeutic approaches in spinal muscular atrophy.
J Neurosci.
2015;35(23):8691-700.
PubMed abstract / Full Text
Viollet L, Melki J.
Spinal muscular atrophies.
Handb Clin Neurol.
2013;113:1395-411.
PubMed abstract
Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.
Drug treatment for spinal muscular atrophy type I.
Cochrane Database Syst Rev.
2012;4:CD006281.
PubMed abstract
Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.
Drug treatment for spinal muscular atrophy types II and III.
Cochrane Database Syst Rev.
2012;4:CD006282.
PubMed abstract
Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A.
Consensus statement for standard of care in spinal muscular atrophy.
J Child Neurol.
2007;22(8):1027-49.
PubMed abstract / Full Text
Wertz MH, Sahin M.
Developing therapies for spinal muscular atrophy.
Ann N Y Acad Sci.
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PubMed abstract / Full Text