Spinal Muscular Atrophy (SMA) Care in Grand Rapids, Michigan

Spinal muscular atrophy (SMA) is a rare genetic neuromuscular condition that affects the nerves in the spinal cord that control muscle movement. For families in Grand Rapids, Michigan, understanding SMA and knowing where to find specialized care—such as at Spectrum Health, Trinity Health Grand Rapids, Metro Health, and Mercy Health—is essential for managing this lifelong condition.

What Is Spinal Muscular Atrophy?

In people with SMA, the motor neurons (nerve cells) in the spinal cord do not work properly. Messages from the brain cannot travel effectively along these nerves to the muscles. Over time, the affected muscles become weak, damaged, and eventually shrink (atrophy).

SMA can affect muscles throughout the body, including:

  • Muscles used for breathing and coughing
  • Muscles used for feeding and swallowing
  • Muscles in the shoulders, hips, back, arms, and legs

When breathing muscles are affected, a person is more prone to pneumonia and other lung problems—especially important to monitor during Michigan’s cold and flu season and in winter months when respiratory infections are more common in West Michigan.

Importantly, SMA does not affect a person’s intelligence or senses (hearing, vision, touch).

How Common Is SMA?

  • About 1 in 6,000 babies is born with SMA.
  • About 1 in 40 people carries a copy of the altered gene that causes SMA but does not have symptoms. These individuals are called carriers.

Families in the Grand Rapids area who know SMA runs in their family can access genetic counseling and carrier testing through local clinical genetics services and regional health systems.

SMA Is a Genetic (Inherited) Condition

The SMN1 Gene and SMN Protein

SMA is usually caused by a change (mutation or deletion) in a gene called SMN1 (survival motor neuron 1). Everyone has two copies of the SMN1 gene—one from each parent.

  • People with SMA have a harmful gene change in both copies of SMN1.
  • Each parent of a person with SMA usually carries one changed copy of SMN1 and one normal copy. They are carriers and do not show symptoms.

The SMN1 gene makes a protein called Survival of Motor Neuron (SMN). This protein is essential for keeping motor neurons healthy.
If the body does not produce enough SMN protein, motor neurons begin to die, leading to muscle weakness and atrophy.

Autosomal Recessive Inheritance

SMA follows an autosomal recessive pattern of inheritance:

  • If both parents are carriers, each pregnancy has:
    • 25% (1 in 4) chance of a child with SMA
    • 50% (1 in 2) chance of a child who is a carrier
    • 25% (1 in 4) chance of a child with two normal SMN1 genes

Because around 1 in 40 people is a carrier, genetic counseling and testing can be helpful for couples in the Grand Rapids area planning a family, especially if there is a known family history of SMA.

The Role of the SMN2 Gene and Disease Severity

In addition to SMN1, most people have another similar gene called SMN2. SMN2 can also produce SMN protein, but usually in smaller amounts and in a less complete form.

  • People may have multiple copies of SMN2 (for example, 1–4 or more).
  • More copies of SMN2 generally mean more SMN protein and a milder form of SMA.

Typical patterns (with many exceptions):

  • SMA Type 1: usually 1–2 copies of SMN2
  • SMA Type 2: usually 3 copies of SMN2
  • SMA Types 3 and 4: often 4 or more copies of SMN2

Other natural proteins in the body, called disease modifiers (such as plastin 3 and ZPR1), may also influence how severe SMA is, but research is ongoing.

Types of Spinal Muscular Atrophy

SMA is usually divided into Types 1–4, based on the age symptoms start and the physical milestones achieved. In general, the earlier symptoms appear, the more severe the condition.

SMA Type 1 (Infantile Onset / Werdnig–Hoffmann Disease)

  • Age of onset: Birth to 6 months
  • Symptoms may include:
    • Generalized muscle weakness
    • Floppy or “rag doll” appearance
    • Trouble breathing, swallowing, and sucking
    • Weak cry
    • Difficulty coughing and clearing secretions

Babies with SMA Type 1:

  • Do not reach the milestone of sitting independently
  • Are at high risk for serious respiratory infections, including pneumonia
  • Historically, many did not live beyond age 2, although outcomes are improving with newer treatments and better respiratory care

In Grand Rapids, infants with suspected SMA Type 1 are often referred quickly to pediatric neurology and respiratory specialists at major health systems for early intervention.

SMA Type 2 (Intermediate SMA)

  • Age of onset: 7 to 18 months
  • Symptoms may include:
    • Muscle weakness in the arms, legs, and lower torso
    • Weak respiratory muscles
    • Difficulty standing or walking independently
    • Spinal curvature (scoliosis), often requiring bracing or sometimes surgery

Children with SMA Type 2:

  • Usually learn to sit without help
  • Typically do not stand or walk independently
  • Are at ongoing risk of respiratory complications, particularly during Michigan’s winter respiratory virus season
  • Often live into young adulthood, and many live longer with proper care and monitoring

SMA Type 3 (Kugelberg–Welander Disease)

  • Age of onset: 18 months to 15 years
  • This is the mildest form of childhood-onset SMA.

Symptoms may include:

  • Weakness in the leg, hip, shoulder, and arm muscles
  • Weakness in the muscles used for standing from a seated position, climbing stairs, or running
  • Occasionally mild weakness in respiratory muscles

Children with SMA Type 3:

  • Learn to stand and walk
  • Some lose the ability to walk in adolescence, while others walk well into adulthood
  • Usually have normal life expectancy
  • Rarely have serious problems with swallowing or breathing, though regular monitoring is still important

SMA Type 4 (Adult-Onset SMA)

  • Age of onset: 18 to 50 years
  • Symptoms usually include:
    • Mild muscle weakness, often starting in the legs
    • Tremor
    • Gradual difficulty with activities like climbing stairs or lifting heavy objects

People with SMA Type 4 typically:

  • Have a normal life expectancy
  • Experience slowly progressive symptoms
  • May or may not eventually need mobility aids such as a cane, walker, or wheelchair

Other Rare Types of SMA

There are rare forms of SMA caused by changes in genes other than SMN1, including:

  • SMA-LED (Lower Extremity Dominant) – often due to changes in a gene on chromosome 14; mainly affects the leg muscles
  • SMARD (Spinal Muscular Atrophy with Respiratory Distress) – often due to changes in a gene on chromosome 11; affects breathing muscles early in life
  • X-linked SMA – caused by changes in the UBE1 gene on the X chromosome
  • Other rare forms linked to changes in genes such as DYNC1H1 and IGHMBP2

These rare types may require very specialized genetic testing, often coordinated through neuromuscular clinics and genetics services available through major health systems in Grand Rapids and across Michigan.

Common Symptoms and Complications of SMA

Although symptoms vary by type, SMA can affect multiple body systems.

Muscle and Movement

  • Generalized muscle weakness
  • Difficulty holding up the head (in infants)
  • Delayed motor milestones (rolling, sitting, standing, walking)
  • Fatigue with physical activity
  • Contractures – shortening of muscles and tendons that limit joint movement
  • Scoliosis – curvature of the spine, especially in children who cannot sit or stand independently

Breathing and Respiratory Health

Children and adults with SMA are prone to respiratory infections, which can be more severe in Michigan’s cold, damp winters and during flu season. Complications can include:

  • Pneumonia
  • Chronic lung infections
  • Weak cough and difficulty clearing mucus
  • Respiratory failure in severe cases

For infants with SMA Type 1, respiratory infections are often the leading cause of serious illness and can be life-threatening without close management.

Feeding and Nutrition

Some children and adults with SMA may:

  • Have difficulty sucking, swallowing, or chewing
  • Be at risk for aspiration (food or liquid going into the lungs)
  • Require nutritional support, including feeding through a tube (nasogastric or gastrostomy tube)

Dietitians and feeding specialists in Grand Rapids can help families manage nutrition, which is especially important for growth and immune health in our seasonal climate.

Is There a Cure for SMA?

There is currently no cure for SMA, but:

  • Several disease-modifying treatments now exist and are approved in the United States.
  • Many clinical trials are ongoing, including some available through large academic and regional medical centers in Michigan and the Midwest.

These treatments aim to:

  • Increase SMN protein production
  • Slow or stabilize disease progression
  • Improve or preserve motor function

Families in Grand Rapids should discuss treatment options with a neurologist or pediatric neurologist experienced in SMA. Local health systems may coordinate care with larger regional centers if highly specialized therapies are needed.

Treatment and Management of SMA in Grand Rapids

While cure is not yet possible, comprehensive care can significantly improve quality of life and outcomes. Management is usually provided by a multidisciplinary team that may include:

  • Neurology / Pediatric neurology
  • Clinical genetics
  • Respiratory medicine / Pulmonology
  • Physiotherapy (physical therapy)
  • Occupational therapy
  • Speech and language therapy
  • Gastroenterology / gastrointestinal medicine
  • Dietetics / nutrition
  • Palliative care and supportive care
  • Primary care (your Grand Rapids family doctor or pediatrician)

Focus of Care by SMA Type

  • SMA Type 1

    • Aggressive management of breathing and lung health
    • Support for feeding and nutrition (including feeding tubes when needed)
    • Frequent monitoring for infections, especially in winter
    • Early access to disease-modifying therapies when appropriate
    • Supportive and palliative care to maximize comfort and quality of life

  • SMA Types 2 and 3

    • Regular physiotherapy to maintain strength and mobility
    • Monitoring and treatment for scoliosis and contractures
    • Respiratory monitoring, particularly during illness
    • Mobility aids and adaptive equipment as needed
    • Support in school and community settings, including IEP/504 planning

  • SMA Type 4

    • Symptom management for mild to moderate weakness
    • Exercise and physical therapy tailored to ability
    • Monitoring for gradual progression
    • Workplace and lifestyle adaptations as needed

In Grand Rapids, these services are commonly coordinated through neuromuscular clinics and rehabilitation programs offered by Spectrum Health, Trinity Health Grand Rapids, Metro Health, and Mercy Health, often in partnership with local physical therapy and home care agencies.

Genetic Counseling for SMA in Grand Rapids

If you or your child has been diagnosed with SMA, or if SMA runs in your family, genetic counseling can be very helpful.

What Genetic Counselors Do

Genetic counselors are health professionals trained in both genetics and counseling. They can:

  • Explain what SMA is and how it is caused
  • Discuss how SMA is inherited and what it means for your family
  • Review your personal and family risk of having a child with SMA
  • Arrange carrier testing and genetic testing for family members
  • Discuss prenatal testing and reproductive options if you are planning a family
  • Provide emotional support and connect you with community resources and support groups

In the Grand Rapids area, genetic counseling is available through major hospital systems and specialized genetics clinics. The Kent County Health Department and Grand Rapids Public Health can also direct families to regional genetics and neuromuscular resources.

Living With SMA in Grand Rapids, Michigan

Seasonal and Local Health Considerations

Living in West Michigan brings unique health considerations for families managing SMA:

  • Cold winters and flu season:

    • Higher risk of respiratory infections such as flu, RSV, and pneumonia
    • Important to stay up to date on vaccinations (including flu and COVID-19)
    • Consider avoiding crowded indoor spaces during peak virus season when possible

  • Air quality and Great Lakes climate:

    • Fluctuating temperatures and humidity can affect respiratory comfort
    • Good indoor air quality, humidification, and avoiding tobacco smoke are especially important

  • Access to care:

    • Grand Rapids has several major health systems with neurology, pulmonology, and rehabilitation services
    • Telehealth options are increasingly available, which can reduce travel for families managing chronic conditions

Support and Resources for SMA in Michigan

Families in Grand Rapids can access a range of local and national resources for information and support, including:

  • Your primary care provider (family doctor or pediatrician)
  • Pediatrician or adult neurologist with SMA expertise
  • Muscular Dystrophy–related organizations (national and regional)
  • Genetic Support Network of Michigan (GSNV) – connects families with genetic conditions, including SMA
  • Michigan Clinical Genetics Services – for specialized genetic evaluation and counseling
  • Kent County Health Department & Grand Rapids Public Health – for vaccination, respiratory infection prevention, and community health programs

These organizations can help connect you with:

  • Local and online support groups
  • Educational materials about SMA
  • Information on clinical trials and new treatments
  • Practical support for navigating school, work, and disability services

Key Points About Spinal Muscular Atrophy

  • SMA is a genetic condition that affects motor neurons in the spinal cord, causing muscle weakness and atrophy.
  • Intelligence and senses are not affected by SMA.
  • There is currently no cure, but effective treatments and clinical trials are available and are improving outcomes.
  • SMA is inherited in an autosomal recessive pattern; about 1 in 40 people is a carrier of the SMN1 gene change.
  • The age at which symptoms start generally indicates how severe the condition will be, but the course can vary widely between individuals.
  • Children and adults with SMA are at higher risk of respiratory infections, especially in Michigan’s winter months.
  • A multidisciplinary care team—including neurology, respiratory care, rehabilitation, nutrition, and genetics—can greatly improve quality of life.
  • Families in Grand Rapids, MI have access to specialized SMA care through major health systems, genetic counseling services, and statewide support networks.

If you live in the Grand Rapids area and are concerned about SMA—whether for yourself, your child, or family planning—speak with your primary care provider or pediatrician. They can refer you to local neurology and genetics specialists for further evaluation, testing, and support.