"Lubag" dystonia of panay : a case report / Ginger Alden Ibre.

Includes bibliographical references.

ABSTRACT: The coexistence of Parkinsonism and dystonia in a young Filipino male, whose maternal roots are from Panay island, with a family history of Parkinson`s disease or Dystonia suggests the diagnosis of Lubag dystonia parkinsonism. This condition is characterized by progressive dystonia and parkinsonism beggining in midlife. It is an X-linked recessive disorder afflicting almost exclusively Filipino males. Genetic studies have located the affected gene (DYT3) to Xq13.1. No treatment has been found to be effective. Neuroimaging can be normal or may shows caudate and putamenal atrophy especially in patients reaching the parkinsonian stage. Presented here is a case of a 40 years old, male, from Panay Island, with a family history of dystonic features (2 of his cousins and grandfather) was admitted to the hospital due to painful twisting of the neck, which initially presented as involuntary twisting of the tongue progressing to jaw opening and closing with drooling of the saliva accompanied by slowed walking and decreased arm swing. Laboratories done such as cranial MRI and EMG-NCV revealed normal results. he was given Clonazepam, levodopa/Carvidopa, Biperiden and Botolinum toxin to alleviate his symptoms.

Research - Department of Medicine