Friedreich’s Ataxia Care in Grand Rapids, Michigan

Friedreich’s ataxia (often called “Friedreich’s”) is a rare inherited neurological condition that causes a gradual loss of coordination and balance. People living with Friedreich’s ataxia in Grand Rapids may first notice unsteady walking, frequent tripping or “clumsiness,” and slurred speech that slowly worsens over time.

Local neurology and genetics specialists in Grand Rapids — including teams at Spectrum Health, Trinity Health Grand Rapids, Metro Health, and Mercy Health — can help diagnose and manage this complex condition.

What Is Friedreich’s Ataxia?

Friedreich’s ataxia is a genetic disease that primarily affects:

  • The cerebellum (the part of the brain that coordinates movement)
  • The spinal cord
  • The peripheral nerves
  • The heart (in many people)

Over time, the nerve cells that control movement and coordination deteriorate. This disrupts the smooth flow of electrical signals between the brain, spinal cord, and muscles, leading to problems with balance, walking, and fine motor skills.

Most people with Friedreich’s ataxia will eventually need a wheelchair, typically about 10–20 years after symptoms begin. Life expectancy can be reduced, often due to heart-related complications, but the course of the disease varies widely from person to person.

What Causes Friedreich’s Ataxia?

Friedreich’s ataxia is caused by changes (mutations) in a gene called FXN, located on chromosome 9. This gene provides instructions to make a protein called frataxin.

When the FXN gene is altered:

  • The body produces too little frataxin
  • Certain cells — especially in the nervous system and the heart — do not work properly
  • Over time, this leads to nerve damage, coordination problems, and often heart disease

How Friedreich’s Ataxia Is Inherited

Friedreich’s ataxia is inherited in an autosomal recessive pattern:

  • Each parent carries one altered FXN gene and one healthy FXN gene
  • Carriers usually have no symptoms
  • When two carriers have a child, each pregnancy has:
    • 25% chance the child will have Friedreich’s ataxia
    • 50% chance the child will be a carrier (like the parents)
    • 25% chance the child will inherit two healthy copies

In Grand Rapids, families with a history of Friedreich’s ataxia can meet with a genetic counselor through local health systems or the Kent County Health Department to better understand their risks and testing options.

Symptoms of Friedreich’s Ataxia

Symptoms usually begin between ages 10 and 15, but can appear as early as age 4 or as late as adulthood. In many children and teens in West Michigan, early signs may be mistaken for simple clumsiness or sports-related coordination issues.

Early Symptoms

  • Lack of physical coordination
  • Loss of balance
  • Unsteadiness on the feet
  • Needing to stand or walk with feet widely spaced for balance
  • Worsening unsteadiness in the dark or when eyes are closed
  • Frequent tripping or falls
  • Walking abnormalities (staggering gait)

Progressive Neurological Symptoms

As Friedreich’s ataxia progresses, symptoms may include:

  • Muscle weakness, especially in the legs
  • Jerky movements and increasing lack of coordination in the arms, legs, and body
  • Loss of tendon reflexes in the legs
  • Speech difficulties, such as slurred or slow speech
  • Swallowing problems and a risk of choking
  • Increased susceptibility to respiratory infections (especially during Michigan’s cold and flu season)
  • Numbness and other changes in skin sensation
  • Spine curvatures, such as scoliosis

Sensory and Hearing Changes

  • Numbness or reduced ability to feel temperature, pressure, or pain
  • Vision problems (rarely leading to blindness)
  • Hearing difficulties, particularly:
    • Normal hearing in a quiet room
    • Significant trouble hearing in noisy environments like busy Grand Rapids restaurants or school cafeterias

Heart and Other Complications

About two out of three people with Friedreich’s ataxia develop cardiomyopathy, a disease of the heart muscle.

In cardiomyopathy:

  • Heart muscle fibers gradually weaken and degenerate
  • The heart has to work harder to pump blood
  • Over time, this can lead to:
    • Heart palpitations (racing, pounding, or irregular heartbeat)
    • Chest pain or discomfort
    • Shortness of breath, especially with activity
    • Fatigue
    • Congestive heart failure

Given the added strain that Michigan’s cold winters can place on the heart and lungs, regular cardiology follow-up is especially important for people with Friedreich’s ataxia in Grand Rapids.

Other Possible Complications

  • Diabetes or prediabetes
  • Progressive vision problems
  • Hearing loss or difficulty understanding speech in noisy places
  • Worsening scoliosis or other spinal deformities

How Friedreich’s Ataxia Is Diagnosed in Grand Rapids

If a child, teen, or adult in Grand Rapids shows signs of ataxia (poor coordination, balance problems, or unexplained falls), a healthcare provider may refer them to a neurologist or genetic specialist.

Common diagnostic steps include:

  • Medical history
    Review of symptoms, age at onset, and family history of similar problems.
  • Physical and neurological examination
    Assessment of balance, coordination, reflexes, muscle strength, and eye movements.
  • Genetic testing
    A blood test to look for changes in the FXN gene — this is the definitive test for Friedreich’s ataxia.
  • Electrical nerve conduction tests
    To measure how well signals travel along the nerves.
  • Heart tests
    • Electrocardiogram (ECG) to check heart rhythm
    • Echocardiogram (ultrasound of the heart) to look at heart structure and pumping function
  • Imaging
    • X-rays, especially to evaluate spine curvature
    • MRI (magnetic resonance imaging) of the brain and spinal cord if needed

Spectrum Health, Trinity Health Grand Rapids, and other major hospital systems in the area offer access to these diagnostic services.

Treatment Options for Friedreich’s Ataxia

There is currently no cure for Friedreich’s ataxia. Treatment in Grand Rapids focuses on managing symptoms, maintaining independence, and monitoring for complications.

A care team may include neurologists, cardiologists, physiatrists (rehab doctors), physical and occupational therapists, speech-language pathologists, endocrinologists, and genetic counselors.

Physical and Occupational Therapy

  • Exercise programs to maintain strength and flexibility
  • Aquatic physical therapy (pool-based therapy) to:
    • Reduce joint stress
    • Improve balance and mobility
  • Balance and coordination training
  • Strategies and adaptive tools to assist with:
    • Walking
    • Transfers (bed, chair, car)
    • Daily activities at home, school, or work

Mobility and Orthopedic Support

  • Orthopedic aids such as:
    • Braces or orthotics
    • Walkers, canes, or wheelchairs
  • Regular assessment of:
    • Ataxia (degree of incoordination)
    • Muscle weakness
    • Spine curvature (scoliosis)
  • Surgery may be recommended to correct severe scoliosis or other spinal deformities.
  • Home modifications:
    • Wheelchair ramps
    • Grab bars
    • Bathroom and entryway adjustments to improve safety

Speech, Swallowing, and Nutrition

  • Speech-language pathology to:
    • Improve speech clarity
    • Provide strategies or devices for communication
  • Swallowing assessments to:
    • Reduce choking risk
    • Adjust food textures if needed
  • Maintaining a healthy weight for height:
    • Dietitian support to balance energy needs, especially if movement is limited
    • Monitoring for diabetes or prediabetes

Heart and Diabetes Management

  • Regular heart monitoring with ECG and echocardiograms
  • Medications to:
    • Treat heart palpitations or heart failure
    • Manage blood pressure or heart rhythm
  • Diabetes care when needed:
    • Lifestyle changes
    • Oral medications or insulin therapy

Medications and Symptom Management

  • Medications to:
    • Reduce muscle tremors and spasms
    • Help with pain or discomfort
  • Preventive care for:
    • Respiratory infections (important in West Michigan’s cold, flu, and RSV seasons)
    • Foot care, especially if there is diabetes or reduced sensation

Research and Future Treatments

Researchers in the United States and worldwide are actively studying:

  • The function of frataxin
  • How frataxin deficiency damages nerve and heart cells
  • Potential treatments, including:
    • Gene therapies
    • Medications that may increase frataxin levels
    • Antioxidant therapies and other neuroprotective approaches

Organizations such as the Friedreich’s Ataxia Research Alliance (FARA) support clinical trials and research that Grand Rapids families may be eligible to join through regional academic medical centers.

Genetic Counseling for Friedreich’s Ataxia in Michigan

If Friedreich’s ataxia runs in your family or your child has been diagnosed, genetic counseling can be very helpful.

Genetic counselors:

  • Explain what Friedreich’s ataxia is and how it is inherited
  • Review your family history and discuss your personal risk
  • Discuss genetic testing options for:
    • You and your partner
    • Other family members
    • Future pregnancies (including prenatal or preimplantation testing)
  • Provide emotional support and connect you with support groups and resources in Michigan and nationwide
  • Offer information that is sensitive to your family’s culture, beliefs, and goals

In Grand Rapids, genetic counseling services are available through:

  • Major health systems (Spectrum Health, Trinity Health Grand Rapids, Metro Health, Mercy Health)
  • Referrals from your primary care provider or pediatrician
  • Statewide programs and telehealth genetics services coordinated through Michigan-based organizations

Living With Friedreich’s Ataxia in Grand Rapids

Managing Friedreich’s ataxia in West Michigan often means planning around:

  • Cold winters and icy sidewalks that increase fall risk
    (indoor exercise options and proper mobility aids are important)
  • Transportation needs for frequent visits to specialists and therapists
  • School or workplace accommodations for mobility, speech, or learning needs
  • Community support, including:
    • Local and online support groups
    • National organizations such as:
      • Muscular Dystrophy Association (MDA)
      • Friedreich’s Ataxia Research Alliance (FARA)
    • Resources through the Kent County Health Department and Grand Rapids Public Health programs

Where to Get Help in Grand Rapids, MI

If you are concerned about Friedreich’s ataxia for yourself or a family member, consider:

  • Your primary care provider or pediatrician
    Ask for referral to a neurologist and genetic counselor.
  • Neurology and genetics clinics at:
    • Spectrum Health
    • Trinity Health Grand Rapids
    • Metro Health
    • Mercy Health
  • Local and national support organizations, including:
    • Muscular Dystrophy Association (MDA)
    • Friedreich’s Ataxia Research Alliance (FARA)
    • Michigan-based genetic support networks and clinical genetics services

These resources can help coordinate testing, treatment, rehabilitation, and emotional support for families living with Friedreich’s ataxia in the Grand Rapids area.

Key Points About Friedreich’s Ataxia

  • Friedreich’s ataxia is a rare inherited neurological disease caused by changes in the FXN gene, which reduce production of the protein frataxin.
  • It leads to progressive loss of coordination, balance, and strength, often beginning in childhood or adolescence.
  • Many people develop heart problems (cardiomyopathy), which can cause palpitations and congestive heart failure.
  • There is no cure yet, but treatments in Grand Rapids focus on:
    • Physical and aquatic therapy
    • Heart and diabetes management
    • Speech and swallowing support
    • Orthopedic care and mobility aids
  • Genetic counseling and ongoing research into frataxin and gene-based therapies offer hope for improved future treatments and better long-term outcomes.