Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia-Parkinsonism and Other Movement Disorders

What we are studying

Rapid-onset dystonia-parkinsonism (RDP) and Alternating hemiplegia childhood are rare movement disorders with variable characteristics ranging from sudden onset (hours to days) of severe dystonic spasms to gradual onset of writer's cramp. RDP and AHC have elements of both dystonia and Parkinson's disease—two neurological diseases with motor and neuropsychological symptoms that hinder the quality of life. An internal trigger associated with extreme physiological stress has been reported prior to abrupt symptom onset of RDP or AHC. This study, which is a continuation of an earlier study begun by Dr. Allison Brashear, aims to more clearly identify the characteristics associated with RDP and to explore whether mutations in the RDP gene are associated with atypical dystonias, Parkinson's disease, and other movement disorders.

Who is Eligible

  • Genders:
    • Men
    • Women
  • Races:
    • White
    • African American
    • Asian
    • American Indian or Alaska Native
    • Native Hawaiian or Pacific Islander
    • Other
  • Hispanic or Latino
  • Ages 1 - 85

Eligibility Criteria

  • Diagnosed with RDP (Rapid Dystonia Parkinsonism) or AHC (Acute Hemiplegia Childhood)
  • Ability to travel to Winston-Salem NC

What is involved

  • Blood draw or saliva sample
  • Patient history
  • Family History
  • Videotaped movement disorder exam
  • Neuropsychological assessment
  • MRI of the brain.

Compensation

All travel expenses paid by the study.

Contact Information

Study Coordinator
Charlotte Miller, RN
Email
chmiller@wakehealth.edu
Phone
336-716-9056

Disclaimer: The information on this website is for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, evaluation or care from your physician or other qualified health care provider.