We understand that receiving a diagnosis of spinal muscular atrophy (SMA) for your child can be overwhelming and frightening. At UK HealthCare, we want to assure you that there is hope, and we are here to support you and your child on this journey. UK HealthCare provides outstanding, advanced care for infants and children with SMA in Kentucky.
UK HealthCare has a dedicated team of specialists with extensive experience in managing SMA. We understand the unique needs of each child and family, and we will work closely with you to develop a comprehensive care plan that provides the best possible outcomes for your child.
If your child already has an SMA diagnosis and you're considering transferring care to UK HealthCare, we welcome you. Our team is familiar with the latest treatment options and will ensure your child receives efficient, personable and high-quality care. We can discuss your child's specific needs and answer any questions you may have about ongoing treatment and support services available at UK HealthCare.
While SMA is a challenging condition, there is much reason for hope. With early diagnosis, proper treatment and ongoing support, many children with SMA can live long, fulfilling lives.
You’re in good hands at UK HealthCare
Children with spinal muscular atrophy and their families can find world-class, multidisciplinary care for SMA here in Central Kentucky. Children with SMA who are diagnosed or treated at UK HealthCare benefit from the collaboration between UK Kentucky Neuroscience Institute and Kentucky Children’s Hospital. UK HealthCare offers dedicated child neurology expertise, kid-friendly providers, welcoming spaces, and a whole-child approach to care.
What is SMA?
SMA refers to a group of genetic conditions that affect specific nerve cells called motor neurons. These cells control muscle movements and function throughout the body, from unconscious movements, such as breathing, to purposeful movements, such as walking.
With early screening and new leading-edge treatments, many children with SMA can now live long, healthy lives.
State newborn screening programs in Kentucky test for SMA and identify newborns with the condition. However, when the disease is in its earliest stages, parents may be reluctant for their children to undergo treatment because they may or may not exhibit any or all these symptoms in early childhood. Because the disease progresses over time, it’s critical for children with SMA to begin treatment early and follow recommended treatment protocol.
Early treatment is crucial for the best possible outcomes in children with SMA. Untreated children with type I and type II SMA can have a decreased life expectancy. Untreated children with type I often die within the first two years of life. It's important to understand the different types of SMA and seek prompt evaluation and treatment if any signs of muscle weakness are noticed.
Types of spinal muscular atrophy and associated symptoms include:
- Type I (Werdnig-Hoffman disease): This type is the most severe form of SMA. Signs of the condition are present before birth (type 0) or by 6 months of age (type Ia). Symptoms of type I include:
- Bone and skeletal issues
- Feeding and swallowing concerns
- Lack of certain reflexes
- Low muscle tone
- Type II: Symptoms of type II typically develop when children are between 6 and 18 months old. These children can sit unsupported but are unable to stand or walk independently. Breathing difficulties are also common.
- Type III (Kugelberg-Welander disease): Children with type III SMA develop symptoms around 18 months or later. These children can walk but have difficulty climbing or running. Type III often causes other issues, such as curvature of the spine and respiratory infections.
- Type IV: Type IV SMA develops during adulthood and involves mild to moderate symptoms, including leg weakness.
Spinal muscular atrophy is a genetic condition typically caused by a mutation in the SMN1 gene. This gene produces a protein called SMN, which is needed for healthy muscle development and function.
Parents may not be aware they are carriers of this condition before having a child impacted by SMA.
In most cases, infants with SMA inherit two abnormal copies of the SMN1 gene, one from each parent. If an infant only inherits one abnormal gene, they likely have no symptoms. However, they may pass the abnormal gene to their children.
Another gene, the SMN2 gene, also encourages the production of SMN protein. People may inherit zero to eight copies of this gene. Having one or more copies of the SMN2 gene cannot fully make up for abnormal SMN1 genes, but more copies often lead to less severe SMA symptoms.
Not long ago, spinal muscular atrophy caused significant developmental delays and a reduced life expectancy. However, recent advancements in treatment and early screening mean that the majority of children with SMA are now expected to meet developmental milestones and live full, healthy lives.
Patients diagnosed during a newborn screening
If your child receives an SMA diagnosis through our state newborn screening program, you can expect a swift and coordinated response. Our team will work quickly to schedule a meeting with you, either in a clinic setting, the emergency department or while the baby is an inpatient in the hospital. This meeting will involve a team of specialists, including:
- Expert child neurologist: A physician specializing in neurological conditions in children. They will assess your child's health and provide guidance on managing SMA.
- Geneticist: A doctor with expertise in genetic conditions. They can explain the specifics of SMA and answer any questions you may have about its genetic nature.
- Genetic counselor: A healthcare professional trained in genetics. They will provide emotional support and answer your questions about SMA and its inheritance pattern.
During this initial meeting, our team will take the time to explain everything you need to know about SMA, including:
- The specific type of SMA affecting your child
- The potential impact of the disease
- The various treatment options available, including medications, gene therapy and physical/occupational therapies
Most importantly, they will discuss the next steps in your child's care plan, tailored to their unique needs.
Patients with an established diagnosis
If you already know that your child has SMA, you will meet with a board-certified child neurologist who specializes in SMA during your first visit at UK HealthCare. On the same day, other members of the multidisciplinary Neurology Evaluation and Management Optimization (NEMO) Clinic team will assess your child to check for loss of muscle function and the need for additional services. This subspecialty clinic offers a comprehensive approach to care and provides additional resources for addressing developmental concerns and connecting families with needed resources.
The NEMO Clinic team includes psychologists and occupational, physical and speech therapists. They work closely with child neurologists and families to ensure patients receive all the care they need. During this first visit, you will also be paired with a nurse or social worker who will provide guidance, resources and support throughout your child’s care journey.
Soon after diagnosis, families also meet with a genetic counselor. Genetic testing helps ensure infants and children have the proper diagnosis and receive the most appropriate treatments. Genetic counseling also helps families understand SMA and the risks of passing the condition to future children. Our genetic counselors can also connect families with SMA-related advocacy and support groups.
UK HealthCare specialists are at the forefront of child neurological care. Our team is active in clinical trials and research to improve knowledge and treatment options for SMA. Currently, we are one of several sites nationwide enrolling patients in a clinical trial to study the long-term effectiveness and safety of an SMA medication called risdiplam (Evrysdi).
When your child is a patient at UK HealthCare, their care team will also inform you about new clinical trials here and across the country that may benefit your child.
