The Spinal Muscular Atrophy (SMA) program at the University of Michigan C.S. Mott Children’s Hospital was designed to address the unique needs of children and families affected with SMA. The program utilizes a team based approach to deliver comprehensive, state of the art care.
SMA is a genetic mutation in the SMN1 gene which codes for a protein that is critical to the function of spinal muscle neurons. The SMN2 gene also produces this protein however it cannot completely replace the proteins lost by the SMN1 mutation.
Since 2016, treatments have been available to help improve outcomes for people with SMA. Before these treatments existed, an SMA diagnosis led to progressive disability and sometimes death. Each year, 1 in 6,000 children are diagnosed with SMA.
Symptoms of Spinal Muscular Atrophy
Before treatments were available, SMA was labeled by type as described below. Since treatments have become available, expectations for function and survival have improved. As such, it may be difficult to label the type of SMA for an individual.
- Type I, also called “Werdnig-Hoffman Disease,” is the most severe form of SMA. It is also the most common. Children with SMA type I have the fewest copies of SMN2 and therefore are the weakest. These children have very low muscle tone as newborns. They are not able to sit or hold up their heads. They often have difficulty feeding and swallowing. They have difficulty breathing and can get a respiratory illness very easily.
- Type II children have more copies of SMN II gene and therefore have lesser degree of muscular weakness. These children tend to do well during infancy, they are able to sit up and hold up their heads. They are not able to bear weight on their legs and generally are diagnosed between 6 months and 2 years of age when they do not walk. These children will require a wheelchair for mobility.
- Type III is also called Kugelberg-Welander disease or juvenile SMA. These children do well in early life. They feed and gain weight well they are able to walk. The diagnosis is usually made in the early to mid-school age years when the children demonstrate fatigue and difficulty walking. As they children grow they may need wheelchair assistance for longer distances.
- Type IV disease is diagnosed in adulthood when individuals have trouble with mobility.
Spinal Muscular Atrophy Treatment
Our mission is to provide compassionate, family centered, multidisciplinary care with the goal of maximizing that child’s potential, minimizing complications and promoting quality of life. This care is coordinated across the health care spectrum from outpatient care in the clinic and community to hospitalization for elective procedures and acute illness. Families will develop long term relationships with the team and will always have a place to turn for care, information and support.
Each patient’s care is designed to ensure they receive:
- Comprehensive care delivered in a compassionate, child and family friendly setting.
- Coordinated care to maximize services received at each visit with a goal to minimize trips and travel.
- Evidence based care utilizing the most up to date research supported therapies.
- Empathetic listening to promote comfort in asking questions and receiving honest and complete answers.
- Partnership with parents and families working together toward the common goal of optimizing the child’s life.
Because children with SMA are at risk for a number of potential complications, our SMA care team includes:
- Pediatric Neurologist will make or confirm the diagnosis of SMA and provide treatment recommendations.
- Pediatric Rehabilitation Physician will work with families to optimize function through modalities of therapy and assistive devices including wheelchair seating and bracing.
- Pediatric Cardiologist will work to ensure long term cardiac health and monitor for cardiac function and arrhythmias. Annual testing includes echocardiogram and Holter monitor.
- Pediatric Pulmonologist will evaluate and optimize respiratory function and mucus clearance and mechanical ventilation. The pulmonologist will also monitor for sleep disordered breathing. Annual testing includes pulmonary function for children ages 5 and older and carbon dioxide and oxygen saturation levels.
- Genetic Counselor will work with families to understand the genetic basis of SMA and the impact on the family as well as provide access to clinical trials.
- Clinical Dietitian supports and guides the nutritional plan for each child based on their degree of involvement and clinical situation. The dietician monitors growth and body chemistries through annual blood tests and recommends nutrition based on this information. The dietician works collaboratively with families to incorporate family preferences into the nutritional plan.
- Social worker assists families navigate the many dimensions of SMA care including advocating with insurance, school and community issues as well as providing family support.
- Nursing: The team includes a nurse practitioner and registered nurse to provide care coordination, family and professional education and phone support.
- Respiratory Care Specialist supports the respiratory care and equipment required including ventilators, cough assist, chest oscillator vests.
- Physical Therapy, Occupational Therapy, and Wheelchair Seating Services are also present to provide exercise and equipment recommendations as well as provide support for school or home therapists.
The SMA program is administered through the Pediatric Home Ventilator and Respiratory Support programs. University of Michigan Health is a member of the CureSMA Care Center Network.