Psychogenic movement disorders represent a challenge for the clinical practitioner, as the diagnosis and treatment are usually difficult and the prognosis may be poor in some patients. Sometimes also referred to as “functional,” “conversion,” or “psychogenic,” these disorders must be differentiated from “organic” disorders. Psychogenic movement disorders may have several presentations, including tremor, dystonia, myoclonus, tics, parkinsonism, gait disorders, hemifacial spasm, opsoclonus, oculogyric crisis, painful legs, moving toes, etc. and are not uncommonly accompanied by psychogenic speech and voice disorders.
In this article, Dr. Jose Fidel Baizabal-Carvallo of Baylor College of Medicine discusses current advances in the diagnosis, pathophysiology, and treatment of psychogenic movement disorders.
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Fragile X-associated tremor/ataxia syndrome is a late-onset triplet repeat disorder that leads to dementia, parkinsonism, and neuropathy. Its cause is a restricted triplet repeat expansion mutation in the FMR1 gene, whereas a larger expansion results in fragile X syndrome A in children. In this review Dr. Florian Thomas of Saint Louis University and Dr. Niranjan Singh of the University of Missouri – Columbia focus on fragile X-associated tremor/ataxia syndrome and its relation to fragile X syndrome A.
Fragile X-associated tremor/ataxia syndrome illustrates the importance of obtaining a comprehensive family history that is not limited to clinical questions of the patient. Fragile X-associated tremor/ataxia syndrome is part of the differential diagnosis in patients with varying combinations of the above symptoms with or without a family history of intellectual disability. Some estimates suggest that as many as 1 in 3000 men older than 50 years of age may develop fragile X-associated tremor/ataxia syndrome; such numbers would signify a great impact on healthcare costs. The pathomechanistic evidence of mitochondrial and RNA dysfunction and of a neurodevelopmental component to fragile X-associated tremor/ataxia syndrome is discussed.
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