Standard of care guidelines in spinal muscular atrophy (SMA)
Though it is a rare disease, experts who treat SMA agree on certain standards of care
The International Standard of Care Committee for SMA was formed in 2004 with the goal of establishing guidelines on SMA standards of care.
In 2007, they published the Consensus Statement for Standard of Care in Spinal Muscular Atrophy, addressing different aspects of diagnosis and management, focusing on rehabilitation and orthopedic, pulmonary, nutritional, and palliative care. An updated standard of care document was published in 2018, reflecting new advances in SMA care.
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. A care plan should be coordinated by a healthcare provider, typically a neurologist, who is knowledgeable about the disease and able to provide proactive care as needed.
The level of care may range from comprehensive to palliative
COMPREHENSIVE CARE
Refers to procedures that address both acute problems and the day-to-day management of the individual’s medical needs, including but not limited to:
Pulmonary management
Airway clearance, ventilatory support (invasive and noninvasive), cough and secretion management
Nutritional management
Safe swallowing, weight control, and gastrointestinal dysfunction
Orthopedic management
Bracing or surgical intervention for spinal deformity and scoliosis, management of fractures
Rehabilitation/physical therapy
Nonsitters: Improvement of function, decreased impairment, and increased tolerance to various positions
Sitters: Preventing contractures and scoliosis, and maintaining, restoring, or promoting function and mobility
Walkers: Maintaining, restoring, or promoting function, mobility, joint range, and improving balance and endurance
PALLIATIVE CARE
Focuses on supporting the best possible quality of life. This may include:
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
Striving to help individuals remain as active as possible for as long as possible
Acute care management
Hospitalization may be required for children and adults with SMA in cases of routine illness, bone fractures, labor and delivery for women with SMA, and scheduled surgical procedures (gastrostomy tube placement, spinal intervention, or symptom management).
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.
SMA centers
Often the first referral after a confirmed SMA diagnosis will be to a neuromuscular clinic. These centers specializing in SMA can provide proactive and coordinated care, including:
Centralized appointments that enable individuals with SMA to see all necessary specialists in a single visit
Assistance for those who 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 centers can vary. While some people may be fortunate to live near one, those who don’t may choose to receive regular care at a medical center that is closer to home, or build their own care team with specialists in their community.
