Neuroacanthocytosis (NA) syndromes are a group of rare genetic disorders characterized by the presence of abnormally shaped red blood cells (acanthocytes) and the progressive degeneration of the basal ganglia, leading to various neurological and systemic symptoms. The "rubber man" gait, characterized by distinctive flexions of the neck (manifesting as head drops) and the trunk, is seen in advanced chorea-acanthocytosis. A 35-year-old male patient presented with progressive abnormal movements affecting his limbs and face, along with dysphagia resulting from involuntary protrusion of the tongue and biting of the cheeks and lips over the past three years. He used to place the food on the back of his tongue and throw his head back to begin swallowing. He also kept a towel in his mouth to absorb saliva and prevent cheek and lip biting. The neurologic examination revealed generalized chorea, severe orolingual dystonia (eating dystonia), and sudden loss of tone while walking, resulting in flexion of the trunk followed by extension. We believe that these features could serve as definitive clinical indicators for chorea-acanthocytosis, providing valuable diagnostic insights, especially when accompanied by self-mutilatory mouth movements or feeding-related tongue dystonia.
Keywords: chorea-acanthocytosis; head drops; neuroacanthocytosis; rubberman; trunk extension.
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