Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. There are many types of spinal muscular atrophy, largely differentiated by the pattern of features, severity of muscle weakness, and age when the muscle problems begin.

Spinal muscular atrophy Type I , also called Werdnig-Hoffman disease, is the most severe form of the disorder that is evident at birth or within the first few months of life. Affected infants are developmentally delayed. Most are unable to support their head or sit unassisted. Children with Type I have breathing and swallowing problems that may lead to choking or gagging.

For more information, visit the Muscular Dystrophy Association website’s SMA page.

How Pediatric Palliative Care Can Help

Pediatric palliative care is all of the specialized care not directed at treating the disease itself. Depending on the patient, it might include consultations with a child life specialist, social worker, nurse and/or nurse practitioner, music therapist, massage therapist, occupational therapist, etc. In short, palliative care is designed to provide relief from the symptoms, pain, and psychological and emotional stress of serious illness-whatever the diagnosis. The goals are to promote quality of life for the child, and to ensure that families are active in the child’s treatment, so that medical decisions are patient- and family-focused.

Palliative care is often confused with hospice and end-of-life care. It is intended for children and families living with a life-threatening or terminal condition, but pediatric palliative care is NOT hospice. In fact, palliative care is appropriate for any stage of the illness and can be delivered along with disease directed curative treatments.

Palliative care providers recommend that treatment begin as early as possible in the illness journey. Integrative care that includes palliative medicine can begin at diagnosis.

Ask your pediatrician to recommend a palliative care provider. You may also visit the Center to Advance Palliative Care (CAPC) website, which includes a directory of palliative care providers and hospitals by state.