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AANEM News Express

Science News - Diagnosis and Management of SMA Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic, and Nutritional Care

Submitted by Leigh Maria K. Ramos-Platt, MD, News Science Editorial Board   
Additional comments by David B. Rosenfield, MD, News Science Editorial Board
Mercuri E, et al. Diagnosis and management of SMA part 1: Recommendations for diagnosis, rehabilitation, orthopedic, and nutritional care. Neuromuscular Disorders 28 (2018): 103-115.  
In 2004, a committee of experts in the treatment of spinal muscular atrophy (SMA) (the majority associated with 5q11.2-q13.3) created a task force. The result of their collaboration was the 2007 published SMA Standards of Care (SOC) document. The SMA SOC likely resulted in improvement of natural history in all SMA types. With the current research climate and the approval of Nusinersen in December 2016, the SMA community recognized the need for the SMA SOC document to be updated. Nine areas of SMA care were addressed: 
  1. Diagnosis and genetics 
  2. Physical therapy and rehabilitation 
  3. Orthopedic care, growth, and bone health 
  4. Nutrition 
  5. Pulmonary care 
  6. Acute care in the hospital setting 
  7. Other organ involvement 
  8. Medication 
  9. Ethics and palliative care 
Part 1 of the updated set of guidelines was recently published. This first part addressed the first 4 areas of SMA care. 
This document is quite detailed with references to other key manuscripts in SMA care. Highlights of the updated guidelines include: 
  1. Both SMN1 and SMN2 copy number should be assessed if there is clinical suspicion for SMA 
  2. A multidisciplinary approach was identified as a key element in the management of SMA patients 
  3. Physical assessments including a focused evaluation of the musculoskeletal system should be performed every 6 months 
  4. Regular sessions of physical therapy are needed with specific goals based on the type of SMA and current clinical presentation of the patient 
  5. Prolonged cast immobilization (>4 weeks) for long bone fractures should be avoided 
  6. Nutrition discussions and interventions should include those targeting swallowing dysfunction/dysphagia, weight control, and gastrointestinal dysfunction. These topics as well as growth issues are best evaluated/discussed by a dietician and tailored based on the patient’s SMA type and current clinical presentation.
Dr. Ramos-Platt’s Comments: The updated SMA SOC document is timely given the emerging publications of the results of landmark studies in the field. The full document can be found in the February 2018 issue of Neuromuscular Disorders.
Dr. Rosenfield’s Summary and Comments: Mercuri et al (New Eng. J. Med., 378:625-35; 2018) extended clinical trials of Nusinersen beyond the previously established 2 to 6 months of age in patients: they treated young children with an average age of 3 years. Mercuri et al (Neuromuscular Disorders; 28: 103-115; 2018) review the “Diagnosis and Management of SMA, part 1” with data on how to treat these patients and possible side effects.

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