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Tourette syndrome (also called Tourette's disorder or simply, "Tourette's") is an abnormal neurological condition characterized by motor and vocal tics. Tics are involuntary, rapid, sudden repetitive movements or sounds. Tics can be classified in a variety of ways. Motor tics can affect any part of the body including the head, neck, face, arms, shoulders, hands, feet, or legs. Facial tics, especially eye blinking, are usually the first symptoms of TS. Vocal tics are sounds that are made involuntarily. Vocal tics can include clearing the throat, coughing, sniffing, grunting, yelping, or shouting. In a few cases, vocal tics can include strange, inappropriate, or obscene words and phrases (called coprolalia). Vocal tics can also appear as constantly repeating the words of others (echolalia).
PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. ... Gene alterations (mutations) in the PAH gene cause PKU.
giant systolic pulsations, known as C-V waves, were noticeable during jugular venous examination of a 33-year-old woman who had tricuspid-valve endocarditis. In video 2, transthoracic echocardiography revealed severe tricuspid regurgitation.