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Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
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However different polyQ-containing proteins damage different subsets of neurons, leading to different symptoms. [19] The non-polyQ diseases or non-coding trinucleotide repeat disorders do not share any specific symptoms and are unlike the PolyQ diseases. In some of these diseases, such as Fragile X syndrome, the pathology is caused by lack of ...
Kennedy's disease, a U.S. name for spinal and bulbar muscular atrophy Topics referred to by the same term This disambiguation page lists articles associated with the title Kennedy's syndrome .
Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease (a type of spinal muscular atrophy). It was first documented in 1897 by Johann Hoffmann. [1] It has adult-onset symptoms and is comparable to the childhood-onset Kocher–Debré–Semelaigne syndrome.
“I’m gonna say to NIH scientists, God bless you all,” Mr Kennedy said, NBC News reported. “Thank you for public service. We’re going to give infectious disease a break for about eight ...
Kennedy was asked whether the loss of his full voice felt particularly frustrating, given his family’s legacy of ringing oratory. He replied, his voice still raspy, “Like I said, it’s ironic.”