Rare Disease Sometimes Mistaken For Cerebral Palsy

If your child has been diagnosed with cerebral palsy, you may want to get a second opinion. Medical experts are now advocating for increased education for doctors, as a rare genetic disorder, known as Dopamine-responsive dystonia or Segawa’s Dystonia, is being mistaken for cerebral palsy at an increasingly high rate. Infants with Dopamine-responsive dystonia present with symptoms similar to that of cerebral palsy such as clenched fists, painful stiffness, and uncontrollable crying. However, unlike cerebral palsy, Dopamine-responsive dystonia is treatable once the right diagnosis is made with drug therapy. Dopamine-responsive dystonia hinders the body’s ability to produce dopamine, a chemical which allows the brain to communicate with the body’s muscles. If left untreated, the condition can sometimes result in the permanent impairment of the child’s psychological development into adulthood and severe physical impairment.

Although less than 1,000 people in the United States have been diagnosed with Dopamine-responsive dystonia, some medical experts are now wondering whether the condition is as rare as was originally thought. Physicians are becoming increasingly uncomfortable as more and more infants are being diagnosed with the condition after having been misdiagnosed with cerebral palsy.

In May, ABC News reported the story of Ed Impala, a 54- year old Seattle man who had lived with a cerebral palsy diagnosis for all of his life. Diagnosed at age 20, his condition worsened until he was unable to walk, eat, or bathe without assistance. His wife and three children watched as he became increasingly symptomatic and immobile. Frustrated by his growing symptoms, Impala decided to do some research on his own and discovered that his symptoms mirrored that of a patient with Dopamine-responsive dystonia. Taking a leap of faith, he requested that his doctor prescribe him Levodopa. Unable to eat or dress himself the day before, after taking the medication, Impala found himself cured that day. Suddenly able to dress and shave himself, he woke up, in his own words, “reborn”.

I think that it is disturbing that doctors are failing to diagnose this treatable disorder, and think that increased educational training in the disease should be a mandatory part of continuing education lectures. However, I also think that it is encouraging to hear that some children that have been diagnosed with cerebral palsy may have a much more manageable disorder that can be treated with medication. While I caution parents who have children diagnosed with cerebral palsy not to become unrealistically hopeful that their condition was misdiagnosed, as Dopamine-reponsive dystonia is still a much more rarecondition, I do want to urge you to ask your child’s doctor about Dopamine-responsive dystonia to ensure that a proper diagnosis is made. Furthermore, if you or your child was diagnosed with cerebral palsy and later found out that the wrong diagnosis was made, you may be entitled to compensation. Consult an attorney immediately to find out whether you are entitled to compensation for past medical expenses, pain and suffering, and lost wages.