Spinal Muscular Atrophy (SMA)

Norton Children’s board-certified and fellowship-trained neurologists are the leading providers of spinal muscular atrophy (SMA) care in Louisville, Kentucky and Southern Indiana.

Norton Children’s Hospital is the pediatric teaching hospital for the University of Louisville School of Medicine. Our physicians have expertise in their fields and are training the next generation of pediatric specialists.

We’ll determine the severity of your child’s spinal muscular atrophy and create a treatment plan that minimizes risk, so your child can get back to being a kid.

Our multidisciplinary team, in partnership with the Muscular Dystrophy Association (MDA), allows us to have providers in a single clinic from multiple specialties, including neurology, pulmonary medicine, orthopedics, physical therapy, occupational therapy and speech therapy.

What Is Spinal Muscular Atrophy?

Spinal muscular atrophy is a genetic disorder that affects the part of the nervous system responsible for carrying the signal from the spinal cord to the muscle. As a result, the muscles are weak and atrophy (shrink). SMA affects muscles that control movements of the arms and legs as well as those that control breathing and posture.

There are different types of SMA, each with a different level of severity. Children with more severe forms typically display weakness in infancy. Children with other forms may not display weakness until their teen years or into adulthood.

SMA Treatment

A neurologic exam can diagnose SMA. Our team may perform imaging (MRI) of the brain or spinal cord to evaluate your child for other causes of weakness. Team members may conform a diagnosis using a genetic test performed on the blood.

Until 2016, treatment to change the course of SMA did not exist. That is when a treatment to help slow or stop the progression of weakness in children with SMA became available. In some cases, the weakness may even subside. Our neurology experts have used this groundbreaking treatment in numerous children.

SMA can cause the weakening of the muscles that aid in breathing and thus require a child to have assistance with breathing and coughing. In this situation, our team may prescribe noninvasive devices such as a CPAP or BiPAP. Invasive support includes placement of a tracheostomy (a hole in the breathing tube) and use of a ventilator.

The orthopedic team also will monitor bone health. Children with SMA are at increased risk for scoliosis. Team members monitor children for this condition.

Also part of the University of Louisville, Muscular Dystrophy Association Clinic

Debbie Gilbert, family advocate
Brittany Hornickel, nurse coordinator
Teresa Javier, Speech therapist
Lynn Lukins, physical therapist
Hannah Ragan, occupational therapist
Leah Todd, social worker
Jessica Waits, Muscular Dystrophy Association clinic coordinator

Neuroscience

Contact Us

Connect to the Norton Children’s Hospital Neurology team
(502) 588-3650

Connect with Norton Children’s Neurosurgery team
(502) 583-1697

My child had a seizure. Is it epilepsy?

If your child has a seizure, it can be scary. What caused the seizure? Could your child have epilepsy? While epilepsy is one of the most common neurological disorders in the U.S., having a seizure […]

Read Full Story

Sisters’ bond helps family manage epilepsy

Seven years ago, my younger sister, Samantha, was diagnosed with epilepsy. Who would have thought that fluttering her eyes was actually a seizure? Sam didn’t seem herself, and so our pediatrician ordered a sleep-deprived electroencephalogram […]

Read Full Story

Overcoming arteriovenous malformation, Paducah teenager gives back

In 2012, 11-year-old Jade Cain was diagnosed with a ruptured arteriovenous malformation (AVM), an abnormal cluster of veins and arteries in her brain. Treatment to cure the life-threatening bleed was successful, but it also caused […]

Read Full Story

Ketogenic diet and epilepsy: An approach that can reduce seizures

The ketogenic diet (keto diet) is among the latest Hollywood health fads. Beyond the trendy hype, the ketogenic diet has made a world of difference in the lives of children with epilepsy.   Research has […]

Read Full Story

Facts about spina bifida every parent should know

October is National Spina Bifida Awareness Month. Spina bifida is the most common permanently disabling birth defect in the U.S. The condition affects 1,500 children each year. What do you know about the condition? Learn […]

Read Full Story
Related Stories

My child had a seizure. Is it epilepsy?

If your child has a seizure, it can be scary. What caused the seizure? Could your child have epilepsy? While epilepsy is one of the most common neurological disorders in the U.S., having a seizure […]

Read Full Story

Sisters’ bond helps family manage epilepsy

Seven years ago, my younger sister, Samantha, was diagnosed with epilepsy. Who would have thought that fluttering her eyes was actually a seizure? Sam didn’t seem herself, and so our pediatrician ordered a sleep-deprived electroencephalogram […]

Read Full Story

Overcoming arteriovenous malformation, Paducah teenager gives back

In 2012, 11-year-old Jade Cain was diagnosed with a ruptured arteriovenous malformation (AVM), an abnormal cluster of veins and arteries in her brain. Treatment to cure the life-threatening bleed was successful, but it also caused […]

Read Full Story

Ketogenic diet and epilepsy: An approach that can reduce seizures

The ketogenic diet (keto diet) is among the latest Hollywood health fads. Beyond the trendy hype, the ketogenic diet has made a world of difference in the lives of children with epilepsy.   Research has […]

Read Full Story

Facts about spina bifida every parent should know

October is National Spina Bifida Awareness Month. Spina bifida is the most common permanently disabling birth defect in the U.S. The condition affects 1,500 children each year. What do you know about the condition? Learn […]

Read Full Story

Search our entire site.