Parents & Caregivers

 

 

About Dopa-Responsive Dystonia

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  • Concord, NH
    Phone: (603) 695-2940
    Fax: (603) 695-2960
  • Keene, NH
    Phone: (603) 354-5454
    Fax: (603) 354-6510
  • Lebanon, NH (DHMC)
    Phone: (603) 653-9668
    Phone 2: (603) 653-9669
    Fax: (603) 653-9199
  • Manchester, NH
    Phone: (603) 695-2940
    Fax: (603) 695-2960
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What is dopa-responsive dystonia (DRD)?

  • The term "DRD" is applied to several disorders characterized by stiff movement, abnormal gait, and sometimes abnormal mouth movements. These abnormalities are often severe, especially in the afternoon. It can be considered a form of childhood "Parkinson's disease". Because it is a rare disease, patients with DRD have often been misdiagnosed as having Cerebral Palsy.
  • DRD is caused by an inadequate supply of dopamine to the brain. The disease can be treated successfully with dopa therapy. Other forms of dystonia may not respond to dopa therapy, but may be treated with other therapies.

What are the symptoms?

  • Developmental motor delay, i.e. slowness in walking and other motor skills
  • Tremor associated with movement, particularly in hands and arms
  • Muscle stiffness and rigidity causing balance difficulties
  • Abnormal tongue and mouth movements
  • Parkinsonian symptoms, including a "mask-like" appearance in which facial muscles are slow to respond to changes in emotion
  • Worsening of all symptoms later in the afternoon
  • Onset of symptoms in childhood

My child has some of these symptoms. What's my next step?

For several important reasons, it is best to make an definitive diagnosis of DRD, based on the results of important blood or spinal fluid tests, rather than just trying dopa therapy. To do this properly, patients with DRD will probably need the services of a multi-specialty facility such as the Children’s Hospital at Dartmouth (CHaD) or other academic medical center. Referrals for specialty care generally need to be made by your primary care provider or pediatrician.

If you think your family member may be suffering from DRD, discuss the symptoms above with your doctor. If your doctor agrees that a consultation with a specialist is in order, he or she can make the referral to us or to a facility in your area. To be referred here, we would require the following from your physician:

  • Your child’s medical records from the onset of the illness or first sign of symptoms
  • A note describing your child’s current condition
  • Records of MRI scans
  • Records of blood and urine studies
  • Records of skin and muscle biopsies
  • Records of spinal tap results
  • A note naming the current diagnosis that your physician has given your family member’s condition and the evidence making that diagnosis

How you can help support this work

The Colegroves are one of many, many families at CHaD who benefit from the important research and efforts of physicians like Dr. Filiano and the CHaD Neurometabolic Program. If you would like to help make more miraculous stories like the Colegroves' come true, you can make a gift by calling Sarah Spencer at (603) 653-0726 or writing to the:

CHaD/DHMC Development Office
One Medical Center Drive
Lebanon, NH 03756

Please make your check payable to CHaD. With your financial support, CHaD can continue to provide world class medical care for children.

Contact us

For appointment information, call (603) 653-9668.

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