Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants.

Abstract

Video 1. This video shows the patient at 24 years. Dystonia is generalized, particularly severe at cranio-cervical level, but also involving the upper limbs. Speech is severely impaired. The clip shows involuntary orofacial movements, jaw-opening and tongue protrusion dystonia. At cervical level, there are abnormal postures and torsional movements relieved by a sensory trick (touching the chin with the left hand). Upper limb involvement is prevalent in the right arm with writer's cramp and evidence of mirror dystonia. Gait is broad-based with evident right foot dystonia accentuated by walking. Video 2. Video taken at home at age 29, three months after bilateral GPi implant. Dystonia has progressed. Facial grimaces are continuous, there is constantly flexed neck posture with head tilt to the right and rotational movements. Speech is not intelligible. Dystonic slowing is evident upon repetitive finger and foot tapping. There is bilateral dysmetria in the upper limbs. Sensory tricks (touching of eyelids) provides inconstant relief. The patient is unable to write. Diffuse muscle atrophy is evident, with normal strength. Deep tendon reflexes are brisk bilaterally. The patient is able to stand-up unassisted and uses a walker due to severe gait ataxia. Standing posture is characterized by severe neck and trunk flexion. Gait is wide-based with cock-walk appearance. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.