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Woman Endures 30 Year Cerebral Palsy Misdiagnosis

female patient with doctorMisdiagnosis and incorrect treatment of a medical ailment can cause life-threatening results. Despite high-tech advancements in diagnostic equipment and tests, even well-trained doctors still make mistakes, leaving wrongly diagnosed patients vulnerable to serious complications and even death. Minnesota resident Jean Abbott was comparatively fortunate in her misdiagnosis, reports Fox News, though it still cost her 30 years of unnecessary and painful treatments.

At the tender age of four, Abbott was diagnosed with spastic diplegia, a type of cerebral palsy associated with tightness and reduced mobility in the legs. People with spastic diplegia are known to walk with a stiff, scissor-like gait. In some cases, their feet and knees may be rotated inward, thus exacerbating the problem.

Cerebral palsy diagnosed incorrectly

Through her early and adolescent years the Plymouth, MA woman coped with muscle spasms, mobility problems and leg weakness, but was told that cerebral palsy has no cure. Even when seeking second opinions regarding her awkward gait, health care providers stood by the original diagnosis. Abbott eventually endured several painful surgeries to correct her muscles in an attempt to regain some normalcy in her life, but to no avail.

One operation was a muscle transfer in which surgeons detached muscle from her hips before reattaching it. After the surgery, Abbott was placed in a full-body cast for a month, but her gait was only marginally improved.

It wasn’t until she was 33 years old that Abbott discovered she didn’t have cerebral palsy but dopa-responsive dystonia – a genetic movement disorder that closely resembles CP in symptoms. Even more heart wrenching, she learned that most of her muscle problems could be managed through a daily pill. Abbott told The Mighty – a site that features inspirational stories of patients coping with disability – that she was tired of feeling “overmedicated” and sought the opinion of a new physician who diagnosed her correctly.

Similar to some types of cerebral palsy, dopa-responsive dystonia can cause tremors, muscle stiffness, involuntary contractions, and other seizure-like movements. The condition usually appears during early childhood and affects girls more than boys. Evidence suggests that this condition is often misdiagnosed as cerebral palsy in young children.

Dopa-responsive dystonia responds to drug treatment

Drug therapy with levodopa has proven highly effective for the disorder, even in cases like Abbott’s where symptoms have remained untreated for decades. At first hesitant to take the medication, Abbott was gently persuaded by her husband. After only two days of taking L-Dopa, Abbott began to see positive effects: Her pain was less noticeable and her gait more normal.

“I hadn’t stood without help for a decade,” Abbott told The Mighty. “It was at that moment I realized the medication was working, and my life had changed.”

This failure to diagnose dopa-responsive dystonia, even by a highly qualified pediatric neurologist, led to almost 30 years of near immobility for Abbott, who says she feels no anger toward her doctor despite her lengthy physical ordeal.

An optimist at heart, Abbott says that if it weren’t for her disability, she might have chosen a different university and never have met the father of her children.

  1. Fox News, Woman misdiagnosed with cerebral palsy learns pill can cure her symptoms 

  2. Medscape, Dopamine-Responsive Dystonia,