Spinal Muscular Atrophy Treatments

Spinal muscular atrophy (SMA) is a genetic condition affecting the motor neurons (nerve cells) in the spinal cord. These motor neurons enable the body’s muscular system to work properly. Some cases of severe SMA can compromise vital muscular movements, such as breathing and eating. Fortunately, medical advances have led to the development of targeted therapies that address the root cause of the disease. Here, you’ll learn about these and other treatments for SMA and its symptoms.

syringe and prescription medicineMedical advances have led to targeted treatments for spinal muscular atrophy. Photo Source: iStock.com.

SMA’s hallmark symptom is muscular weakness (atrophy), but it may lead to other conditions affecting different bodily systems (eg, respiratory, orthopaedic, cardiac). Spinal muscular atrophy also varies in severity, and in many cases, there’s not simply one treatment used for SMA. The severity of the condition and functional ability of the patient (ie, whether the patient can sit or walk independently) plays a primary role in the treatment approach.

The treatments available today may involve several specialists (a multidisciplinary team) and approaches to comprehensively address the condition. If you or a loved one have been diagnosed with SMA, the multidiscliplinary team will coordinate their care and work with you to support the best possible outcome.

Earlier Diagnosis Means Earlier—and More Effective—Spinal Muscular Atrophy Treatment

Advances in medicine have led to earlier diagnoses and the development of targeted therapies, meaning more people with SMA are enjoying better outcomes and long-term outlooks.

Getting a diagnosis and starting treatment as early as possible is crucial to long-term positive outcomes with SMA. Spinal muscular atrophy is caused by a problem with the SMA survival motor neuron gene 1 (SMN1), which produces a protein that feeds the motor neurons in the spinal cord. When the gene isn’t able to produce enough protein, the motor neurons may die and can’t be regenerated. That’s why starting a drug therapy that prevents the loss of these neurons as early as possible is so important. If a newborn screening detects SMA, the baby can begin treatment even before symptoms show.

SMA-Enhancing Therapies: Two FDA-Approved Treatments

The U.S. Food and Drug Administration (FDA) has approved 2 drug treatments that boost the body’s survival motor neuron (SMN) protein. The doctor may refer to these therapies as SMN-enhancing or SMN-based treatments.

  1. Spinraza (nusinersen) is approved to treat all types of SMA, and patients of all ages may use it.
  2. Zolgensma (onasemnogene abeparvovec-xiol) is approved to treat newborns and toddlers with SMA up to age two.

Risdiplam, an investigational oral medication for the treatment of all types of spinal muscular atrophy, is under priority review for possible approval by the FDA.1

Non-Survival Motor Neuron (SMN) Approaches Target Muscles and Nerves

The doctor may recommend a combination approach to treatment; that is, the treatment regimen may include SMN-enhancing therapy and a non-SMN therapy. Non-SMN therapies address symptoms impacting other parts of your body, such as the muscles or nerves.

Treatment may include using an SMN-enhancing drug along with a non-SMN drug at the same time, or you may take an SMN-enhancing drug at one point followed by a non-SMN drug. The doctor will work with you to address specific symptoms so that combination therapy has the most benefit.

Specialized Care for Spinal Muscular Atrophy: Pulmonary, Gastrointestinal, Orthopaedic

Upon diagnosis, the doctor will work with you to build a team of specialists to be involved in various areas of SMA care. These specialists will work together—and with you and your family—to give offer the best opportunity to achieve long-term good outcomes and quality of life.

Among the specialists trained to treat spinal muscular atrophy is a pulmonary specialist (windpipe, lungs), as SMA can weaken respiratory muscles. This clinician will target the disease’s respiratory symptoms, such as breathing challenges. SMA’s pulmonary complications are among the most severe and life threatening, so seeing a pulmonary specialist is an essential step after diagnosis. A pulmonary specialist will closely monitor the condition and help you learn how to prevent respiratory problems before they occur using non-invasive approaches.

The doctor may also refer you to a gastrointestinal (GI) specialist and/or dietician to target GI and nutritional complications. Some people with SMA, particularly if they aren’t able to sit or stand, have problems eating due to mouth-related muscle weakness or lack of head control. GI specialists can help address difficulty with feeding and swallowing, gastric reflux, and constipation by recommending a diet of soft or semi-liquid foods and reflux medication. In severe cases where mouth feeding is no longer a safe option, a GI specialist may recommend inserting a gastrostomy tube to deliver nutrients directly to the stomach.

Related to these complications are both malnutrition and obesity. Malnutrition is common in patients who struggle feeding through the mouth, and obesity may become a concern in people who cannot sit or walk. A dietician can address each patient’s unique nutritional needs to reduce or eliminate the dietary complications of SMA.

The doctor may also refer you to an orthopaedic specialist to address musculoskeletal issues caused by SMA. These specialists help patients maintain function, such as the ability to walk, and treat secondary disorders, such as scoliosis.

With patients who are unable to walk, orthopaedic specialists can use stretches and bracing to treat contractures, which occur when muscles harden and cause joint deformity. To maintain independence, doctors may prescribe wheelchair use.

If the patient is able to stand, walkers, special foot braces, and physical therapy may help maintain stability and strength. Gentle, low-impact activities like swimming can help improve strength and overall health.

A common orthopaedic disorder sometimes associated with SMA is a spinal deformity called scoliosis. Some people with type 2 or type 3 SMA, who do not walk may develop scoliosis. If the doctor detects an abnormal spinal curve, he or she will likely first monitor the curve to see how it progresses. However, the curve may warrant immediate bracing to slow the rate of curve progression or spine surgery to halt it entirely.

Achieving a Good Quality of Life with Spinal Muscular Atrophy

With new drug therapies and a focus on coordinated care among medical specialists, people affected by spinal muscular atrophy have brighter outlooks than ever before. Early diagnosis and treatment are essential to long-term health and quality of life. Your role as part of the medical team is also crucial. Don’t hesitate to ask questions and advocate for your or your child’s health.

Updated on: 01/24/20
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Spinal Muscular Atrophy: Causes, Types, Symptoms, Diagnosis
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Spinal Muscular Atrophy: Causes, Types, Symptoms, Diagnosis

Spinal muscular atrophy is a genetic disorder that affects nerve cells in the spinal cord responsible for muscle movement and control.
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