Spinal Muscular Atrophy (SMA) Treatment

As part of offered neurology services, Memorial Healthcare diagnoses and treats spinal muscular atrophy (SMA) using a medication called Spinraza. Dedicated to delivering compassionate care to patients in Shiawassee County and its surrounding areas, the providers and staff at this non-profit hospital work collaboratively with patients, residents, and community leaders to develop new care offerings and expand on current services.

What Is Spinal Muscular Atrophy?

Spinal muscular atrophy refers to genetic diseases impacting a person’s central and peripheral nervous system and voluntary muscle abilities. Over time, the illness destroys motor neurons, which are nerve cells in the brain stem and spinal cord. Motor neurons facilitate movement in numerous body parts, including arms, chest, face, legs, throat, and tongue.

As motor neurons deteriorate, muscles wane, and the sufferer experiences twitching, also called fasciculations. Spinal muscular atrophy creates conditions that make it difficult for people to walk, talk, swallow, breath, and perform other fundamental skeletal muscle tasks. Typically, people experience worse atrophy in their arms, upper legs, and torso than their hands and feet.

Types of Spinal Muscular Atrophy

The most widespread variation of spinal muscular atrophy develops from deficiencies in both copies of the survival motor neuron one gene (SMN1) on chromosome 5Q. Since this gene creates the survival motor neuron (SMN) protein, it is seemingly required for a person to have standard motor neuron function.

Neurologists often see the deletion of an entire gene segment (exon 7) in patients with spinal muscular atrophy, although it can manifest from other causes. Rarer forms of the disease stem from mutations in other genes. Even in those who contract the disease from a mutation of the SMN1 gene, the age of onset and intensity of muscle weakness varies. However, the common variant can be separated into the following four categories:

  • Type I (Werdnig-Hoffman disease, infantile-onset SMA): Children typically show signs of Type I before they are six months old and experience poor tendon reflexes, swallowing trouble, breathing difficulties, reduced limb movement, fasciculations, and diminished muscle tone (hypotonia). They also contract scoliosis or other skeletal abnormalities as they age. Type I is the most severe form, and patients not receiving treatment often die of respiratory failure by age two.
  • Type II: This intermediate variation usually presents in children between six and 18 months old but can begin earlier. Type II sufferers have respiratory problems, such as hypoventilation during sleep, and cannot walk or stand without support.
  • Type III: Children exhibit symptoms after 18 months and have trouble running, walking, climbing stairs, and getting up from chairs. Eventually, they can walk independently. Key signs of Type III are tremors in the hands and weakened proximal leg muscles. This disease can put sufferers at a higher risk for respiratory infections and may lead to joint contractures and scoliosis.
  • Type IV: This mild variation develops in young adulthood, usually around age 21. It features moderate proximal muscle atrophy and similar symptoms.

Patients can learn more about the various spinal muscular atrophy types and other aspects of the disorder by visiting the Cure SMA website.

Diagnosis and Treatment  

Neurologists test for spinal muscular atrophy by searching a blood sample for mutations or deletions of the SMN1 gene. This exam is one of the most effective techniques for identifying if the patient has the disease. According to National Institute of Neurological Disorders and Stroke, it detects a minimum of 95% of types I through III and can show if the person carries an affected gene. Other assessments used for spinal muscular atrophy include a muscle biopsy, electromyography, and nerve conduction velocity studies.

While no absolute cure exists for this disease, providers may offer patients multiple services to manage their symptoms, such as exercise regimes, nutritional guidance, and different. Some people obtain wheelchairs, braces, and tools to overcome the limitations of spinal muscular atrophy.

About Spinraza

Medication is available to help those with spinal muscular atrophy, as well. At Memorial Healthcare, the neurology department administers Spinraza to patients 15 and older to help stabilize the course of the disease. Spinraza is the first medication approved by the United States Food and Drug Administration to treat children and adults with spinal muscular atrophy.

Memorial Healthcare is one of five hospitals in Michigan offering Spinraza. In December 2017, Margaret Frey, DO administered Spinraza to her first patient. The team of neurologists partners with interventional radiologists at the main facility to deliver the treatment to outpatients. Patients receive four initial doses directly into their central nervous systems and then get the supplement doses three times a year.

Studies suggest that Spinraza leads to substantial improvement of motor and upper limb function in six months for patients with later-onset spinal muscular atrophy, and lowers the risk of mortality by 63% for those with early-onset manifestations of the disease. Here are some of the impacts patients at Memorial Healthcare claim the drug has had on their lives:

  • A 23-year-old noticed progress in her muscle movement after one treatment. She could roll from her back to her side and pick up a glass and plate.
  • A 60-year-old could push elevator buttons again because of Spinraza – something he was unable to do for many years.


Questions About Spinal Muscular Atrophy (SMA) Treatment?

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Margaret Frey, DO

Memorial Medical Associates About

Dustin Nowacek, MD

Memorial Medical Associates About


819 N. Shiawassee Street
NOW Building - 1st Floor
Owosso MI 48867

Phone: 989-723-1390 Fax: 989-725-1415

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4200 Fashion Square Blvd, Suite 301
Saginaw, MI 48603

Phone: 989-729-4206 Fax: 989-729-4207

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