Abstract Details

Title Photosensitive Facial Dystonia as the First Manifestation of Dopa Responsive Dystonia

Topic Movement Disorders

Presentation(s) P02 - (-)

Poster/Presentation
Number 071

Objective

Background BACKGROUND: Dopa responsive dystonia (DRD) is a predominantly autosomal dominant disorder that in most cases is caused by GTP cyclohydrolase I deficiency. It usually starts in childhood with lower limb involvement. Photosensitive facial dystonia as initial presentation of DRD has not been described previously.

Design/Methods DESIGN/METHODS: The patient is a 51 year-old female who visited our clinic for evaluation of impaired gait. Her symptoms started in the teenage years when exposure to bright light often caused facial twitching in right side of the face, pulling of the right eyebrow and corner of the mouth interfering with speech. At age 25, she developed spasms in her back. Three years later she noticed episodes of her feet turning in, impairing her balance which progressed and forced her to use a cane for ambulation. Gradually, she developed cervical dystonia and intermittent spasms of the limb and trunk muscles which responded to gabapentin and baclofen modestly. A 26 year-old daughter just developed difficulty with walking but was not available for study. On examination, the patient walked wide based with intermittent inversion of both feet. There were constant dystonic contractions of both frontalis, right orbicularis oculi, risorius and zygomaticus muscles. Shining a light into the right eye resulted in severe contraction of right facial muscles and closure of the right eye. (videotape)

Results RESULTS: Magnetic resonance imaging of the brain and cervical spine, electromyography and nerve conduction velocity studies and DAT scan showed no abnormality. Treatment with carbidopa/levodopa 25/100mg twice daily resulted in marked improvement of facial and foot dystonias. Patient now walks normally two years after initiation of therapy and has minimal facial dystonia.

Conclusions CONCLUSIONS: Dopa responsive dystonia can present with facial dystonia and photosensitivity years before development of foot dystonia. Facial dystonia and photosensitivity also respond well to dopa treatment.

Authors/Disclosures
Delaram Safarpour, MD, MSCE, FAAN (Parkinson Center Oregon Health & Science University) PRESENTER	Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving as a Consultant for 2nd MD. Dr. Safarpour has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Boston Scientific. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Medtronic. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Insightec. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for BlueRock. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Acadia. Dr. Safarpour has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Boston Scientific. The institution of Dr. Safarpour has received research support from Medtronic. The institution of Dr. Safarpour has received research support from Amneal. The institution of Dr. Safarpour has received research support from CND life science.
Anna Sorokin, MD	No disclosure on file
Bahman Jabbari, MD, FAAN	Dr. Jabbari has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abbvie. Dr. Jabbari has received publishing royalties from a publication relating to health care.
	No disclosure on file

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