University of Lynchburg DMSc Doctoral Project Assignment Repository

University of Lynchburg DMSc Doctoral Project Assignment Repository


Family Medicine


Dr. Laura Witte


Huntington disease (HD) is a progressive neurodegenerative disorder caused by an autosomal dominant inherited mutation of the cytosine-adenosine-guanine (CAG) nucleotide within the Huntington gene. Symptom onset commonly begins with minor changes in movement and personality, increasing with disease progression. These changes result in parkinsonism, ataxia, dysphagia, and chorea, characterized by random, jerky movements of the limbs and face. Additional psychiatric symptoms of HD include irritability, mood changes, and progressive cognitive dysfunction. There is no cure for HD and clinicians primarily focus on symptom management. First- and second-generation antipsychotics were traditionally used for the management of chorea, but these have fallen out of favor due to their significant side effect profile. More recently, vesicular monoamine transporter 2 (VMAT2) inhibitors have been utilized in the treatment of chorea. These function by reducing available monamines in central nervous system synapses. An isotopic isomer of tetrabenazine, deutetrabenazine, is a more targeted medication, with a reduced side effect profile. With overall improved safety and reduction of adverse effects, deutetrabenazine is an excellent choice for the management of chorea in HD.


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