MANAGING

SMA

Experts suggest that a multidisciplinary care approach that includes a variety of medical specialists may help improve overall health and survival in people with spinal muscular atrophy (SMA).1

The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.

ESTABLISHING
GUIDELINES FOR
SMA CARE

In recent years the care for spinal muscular atrophy (SMA) has changed, and along with it the approach to care in managing the disease.

Though SMA is a rare disease, there are some established guidelines to help both caregivers and healthcare professionals understand the different aspects of supportive care.1,2

The International Standard of Care Committee for SMA was formed in 2005 with the goal of establishing guidelines for clinical care.

In 2007, they published the first Consensus Statement for Standard of Care in Spinal Muscular Atrophy– important guidelines which were adopted by clinicians around the world. An updated standard of care document reflecting recent advances in the understanding and treatment of spinal muscular atrophy was recently published in 2018.

The current guidelines recommend that a wide-ranging team of medical experts be involved in caring for a patient with spinal muscular atrophy, together with the family. This multidisciplinary care should be coordinated by one of the physicians – generally the neurologist or paediatric neurologist.

TREAT-NMD worked with the authors of the International Consensus Statement on Care in Spinal Muscular Atrophy to create useful summary fact sheets based on the full published document. A TREAT-NMD working group is continuing to develop the standards for care on SMA in areas such as physical and occupational therapy, orthopaedics, nutrition and psychosocial implications.

 

TREAT-NMD = Treat Neuromuscular Disease (a global academic network focusing on advancing research in neuromuscular disorders)

Access A Guide for Families on the Standards of Care for SMA here:

THE LEVEL OF CARE MAY RANGE FROM PROACTIVE
TO PALLIATIVE

PROACTIVE CARE

Refers to procedures that address both acute problems and the day-to-day management of a patient’s medical needs, including, but not limited to:1,2

  • Airway clearance, cough, and secretion management
  • Ventilator support (invasive or non-invasive)
  • Nutrition and hydration
  • Physical therapy, stretching and positioning
  • Orthopaedic care to promote growth and bone health
  • Acute care when a patient is sick or needs to go into hospital
  • Treatment with new medicines approved for spinal muscular atrophy

PALLIATIVE CARE

Focuses on prevention and relief of suffering to support the best possible quality of life.

This may include:3,4

  • Managing discomfort and preventing unnecessary interventions
  • Potentially life-sustaining measures with regard to the individual and his or her family
  • Psychosocial and spiritual support to the individual and/or his or her family

The purpose of palliative care is to improve the quality of life for individuals with life-threatening illnesses, though this does not mean that they are near death. According to the World Health Organization (WHO), palliative care is best accomplished by a multidisciplinary team that includes the family.4

CARE OPTIONS IN SPINAL
MUSCULAR ATROPHY

There are many aspects to care as every individual will experience symptoms differently and the level of care provided must be decided by a physician.

This can change depending on circumstances and the goal of the supportive care.1

Always contact your physician if you have questions about appropriate care options.1

1. RESPIRATORY

Respiratory care is a central focus in spinal muscular atrophy. Muscle weakness in the chest can interfere with the ability to breathe or cough effectively and increases the risk of an infection. Respiratory care options can involve non-invasive or invasive techniques.2

  • Non-invasive respiratory care involves techniques that avoid or delay the use of invasive intervention. Special equipment such as a ventilator or bilevel positive airway pressure (BiPAP) machine can deliver a continuous flow of air to the lungs through a mask that covers the mouth and/or nose. A cough assist device may also be used at home to help with cough and to clear secretions.2,5
  • Invasive respiratory care provides a secure airway to the lungs via an endotracheal tube that goes through the mouth (intubation) or directly into the trachea through a small incision in the neck (tracheotomy).6

2. NUTRITION

Muscle weakness may lead to some individuals with SMA to lose their ability to chew and swallow effectively.This puts them at risk of inhaling food and liquid into the lungs and developing respiratory infections. A temporary or long-term feeding tube can be put into place with the goal of providing the necessary nutrition and hydration.7
In general, there are 2 types of feeding tubes: nasal and abdominal.

  • Nasogastric (NG) tubes enter the nose and feed directly into the stomach. These are typically used for patients who need feeding tubes for only a short period of time and can be easily replaced.1,8
  • Gastrostomy (G) tubes are placed surgically through the abdomen and into the stomach. They are relatively easy to maintain, which makes them a preferable option for those who require longer-term feeding support.9,10

3. ORTHOPAEDICS

Scoliosis (curvature of the spine) is a problem in patients with spinal muscular atrophy due to muscle weakness. An orthopaedist may recommend postural support (bracing) or surgery for scoliosis.1,11

4. PHYSICAL THERAPY

Individuals with spinal muscular atrophy may be too weak to move their joints throughout their full range of motion, which can put them at risk of developing contractures, or tightness of the muscles. This can become permanent and prevent movement.

Physical therapy may consist of exercises and stretching techniques to help improve flexibility and overall function. These can reduce the risk of joint contractures, stop scoliosis getting worse and help to maintain a healthy weight.

There is increasing evidence to show that regular physical therapy sessions can have a positive impact on function and disease progression in patients with spinal muscular atrophy.1

SMA CENTRES

Some neuromuscular disease centres specialising in SMA may provide families
with proactive and coordinated care, including:12

Centralised appointments that enable families to see all necessary specialists in a single visit.

Assistance for families that need to travel significant distances (parking, meals, lodging, etc.)

Collaboration and sharing of information among physicians that allows more strategic, coordinated care planning.

Centralised appointments that enable families to see all necessary specialists in a single visit.

Assistance for families that need to travel significant distances (parking, meals, lodging, etc.)

Collaboration and sharing of information among physicians that allows more strategic, coordinated care planning.

Locations of treatment centres can vary.

While some families may be fortunate to live near one, those who don’t may choose to receive regular care at a medical centre that is closer to home. Some families may also choose to build their own care team with specialists in their community.

Learn more about specialised equipment at home

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to learn more about about how to be part of the SMA community

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The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.

References

1. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscl Disord 2018;28(2):103-115.

2. Finkel RS, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018;28(3):197-207.

3. Blinderman CD, Billings JA. Comfort care for patients dying in the hospital. N Engl J Med. 2015;373(26):2549-2561.

4. World Health Organization. WHO definition of palliative care. [online] [cited 2016 Apr 28]. Available from: URL: http://www.who.int/cancer/palliative/definition/en/.

5. Bach JR, Gonçalves MR, Hon A, et al. Changing trends in the management of end-stage neuromuscular respiratory muscle failure: recommendations of an international consensus. Am J Phys Med Rehabil 2013;92(3):267-277.

6. Schroth MK. Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics 2009;123(suppl 4):S245- S249.

7. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69(20):1931-1936.

8. Shlamovitz GZ, et al. Nasogastric Intubation. Medscape. Available at: http://emedicine.medscape.com/article/80925-overview. Updated: Jul 26, 2016. Accessed January 9, 2017.

9. Blumenstein I, Shastri YM, Stein J. Gastroenteric tube feeding: techniques, problems and solutions. World J Gastroenterol 2014;20(26):8505-8524.

10. Cure SMA. Tube Feeding and SMA: Recommendations and Practices. Available at: https://www.curesma.org/wp-content/uploads/2019/07/tube-feeding-conf-2018.pdf. Published June 16, 2018.

11. Prior TW, Russman BS. Spinal muscular atrophy. NCBI Bookshelf Website. http://www.ncbi.nlm.nih.gov/books/NBK1352/. Updated November 14, 2013. Accessed April 15, 2016.

12. European Network for the Cure of ALS. NEuroMuscular Omnicentre (NEMO). [online] [cited 2016 Apr 28]. Available from: URL: http://www.encals.eu/center/neuromuscular-omnicentre-nemo/.