Our neurologists work with other specialists to host a clinic twice a month for children with spinal muscular atrophy (SMA). The multidisciplinary team accurately diagnoses your child and creates a comprehensive treatment plan. Treatments can slow or reverse the symptoms of SMA and improve your child’s quality of life.

What Is Spinal Muscular Atrophy (SMA)? 

Spinal muscular atrophy (SMA) is a genetic condition that affects nerves and muscles. The muscles don’t receive signals from nerve cells located near the spine, leading to difficulty with muscle movement and atrophy (shrinking).

The muscles usually involved are those closest to the middle of the body. This often includes the shoulders, hips, thighs and upper back. The condition may also affect the muscles used for swallowing and breathing. Some children with SMA develop curves in the spine.

The muscles that are affected, severity of disease and age when symptoms begin vary widely. There are several types of SMA, from Type 1 to Type 4. Most are related to a mutation in chromosome 5 (the SMN1 gene) and are classified based on when symptoms start. SMA Type 1, which is typically diagnosed before a baby is 6 months old, is the most common.

SMA Diagnosis

An accurate diagnosis is key to developing an effective treatment plan. After your child’s neurologist conducts a thorough examination, they may order tests, such as:

• Electromyogram (EMG), which measures muscle activity while your child is at rest and moving
• Genetic testing to identify gene mutations that cause the condition
• Muscle biopsies to look for signs of SMA
• Nerve conduction study, which determines how quickly electrical signals pass through your child’s nerves
• Pulmonary function tests to assess how well the lungs are working

Spinal Muscular Atrophy Treatment

Your child’s treatment plan aims to reduce symptoms to improve their mobility and quality of life. The plan may include:

• Assistive devices and wheelchairs to improve mobility
• Braces to support weakened parts of the body
• Occupational therapy to help your child perform everyday tasks more successfully and independently
• Physical therapy to improve your child’s strength and help them maintain balance and prevent falls
• Respiratory therapy to improve breathing
• Speech therapy to help your child overcome difficulty with breathing, speaking or swallowing 

We also offer several disease-modifying therapies approved to treat SMA:

• Spinraza® (nusinersen), which treats the underlying defect in SMA and may slow, stop or perhaps reverse symptoms
• Zolgensma® (onasemnogene abeparvovec-xioi), a gene-replacement therapy for neuromuscular disease
• Evrysdi® (risdiplam), which can increase levels of the SMN protein

Our Team Approach to Treating SMA

At the SMA Clinic, you and your child will have one-on-one meetings with a:

• Neurologist, an expert in the nervous system
• Pulmonologist, a lung specialist
• Neuropsychologist to address the mental health challenges that can accompany chronic illness
• Registered dietitian to optimize nutrition
• Social worker to help you navigate the healthcare system and get any type of support your child may need

The team may also refer you to other specialists as needed, such as:

• Genetic counselor to help you understand the condition, its causes and how it may affect other family members
• Nephrologist to address metabolic bone disease
• Orthopedist to treat scoliosis (spine curvature) and hip dysplasia (when the hip joint doesn't develop properly)
• Physiatrists and physical therapists to assess mobility and facilitate equipment needs

Spinal Muscular Atrophy: Why Choose Joe DiMaggio Children’s Hospital?

When you bring your child to Joe DiMaggio Children’s Hospital for SMA diagnosis and treatment, you’ll find:

• Specialized SMA clinic: Our twice-monthly SMA clinic brings together all the key specialists your child needs. You meet with each specialist on the same day in the same place. This makes care more efficient, so you have fewer appointments to attend.
• Experienced specialists: Our SMA team includes multiple specialists who are board certified and fellowship trained, with years of experience treating children living with SMA. The team communicates clearly and works together to provide comprehensive care. 
• Tailored treatments: SMA affects every child differently. We design a personalized plan to meet your child’s unique needs and goals. 
• Continuing care: We partner with you to care for your child from infancy through early adulthood. This may include advocating for your child at school or for extra community support. When they’re ready, we help your child transition to adult care.
• Wheelchair clinic: Joe DiMaggio Children’s Hospital has three wheelchair clinic locations. Your child with SMA can be evaluated and fitted for special equipment for bathing, walking, riding in transportation and more.