|
Dear Primary Care Provider, Spinal Muscular Atrophy is a neuromuscular disease of the lower motor neuron that causes weakness of the skeletal and respiratory muscles. Cognitive development is usually not affected. There is a wide range of severity, from Type I in which patients cannot sit independently and require aggressive interventions for survival, to Type II and III patients in whom the care needs are variable depending on the severity of their weakness. Patients with SMA often have impaired cough, respiratory insufficiency, dysphagia, gastroparesis, constipation, and evolving orthopedic issues including scoliosis. Various types of equipment may be used, from respiratory support during sleep, e.g. BiPAP and mucus clearance devices, to gastrostomy tubes, to wheelchairs and braces. Despite these specialized needs to optimize function, you, the primary care provider, remains an integral part of the care team. Usual primary care practice, especially care coordination, family support, as well as routine pediatric care immunizations, developmental surveillance, and monitoring of growth contribute to the overall well-being of this child and their family. A document addressing the standard of care for patients with SMA can be found below along with several additional documents and links. Families of SMA maintains a website with many resources for both families and professionals; in addition the members of the Medical Advisory Council are available to you as clinical issues arise. We represent a number of disciplines, including neurology, pulmonology, critical care, rehabilitation medicine, orthopedics, physical therapy, nutrition, psychology, and primary and palliative care. Although challenging, we have found that caring for patients and families with SMA to be a very rewarding experience. Please let us know what we can do to help. Sincerely, The Families of Spinal Muscular Atrophy Medical Advisory Council.
|
