Disease State Diagnosis

HD, first described in 1872, is a rare disease affecting both motor and cognitive abilities. It is one of the nine polyQ diseases that affect the CNS. HD onset usually occurs around age 40 but cases have been reported in infants as young as 2 years and in elderly patients up to 80 years of age. The mean duration of disease from time of diagnosis is 15-20 years.78 Approximately 30 000 people in the US have the disease, with the worldwide prevalence being approximately 1 in 20000. Symptoms include motor dysfunction, with patients displaying writhing or jerking movements of the upper limbs and trunk that are continuous and involuntary (termed choreatic movements, chorea, or choreaoathetosis) in addition to impairment in voluntary movements, e.g., gait, speech, and swallowing.79 Psychiatric symptoms and cognitive decline also occur. Postmortem assessment shows selective neuronal loss in the striatum, particularly GABAergic medium spiny neurons. Loss of GABA inhibitory neurotransmission disrupts basal ganglia signaling; involuntary movements become excessive and voluntary movements become impaired. HD is predominantly a familial disease with an autosomal dominant pattern of inheritance; thus the presence of a single mutant gene dictates disease occurrence.

Blood Pressure Health

Blood Pressure Health

Your heart pumps blood throughout your body using a network of tubing called arteries and capillaries which return the blood back to your heart via your veins. Blood pressure is the force of the blood pushing against the walls of your arteries as your heart beats.Learn more...

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