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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.
The disease cluster was first noted through the routine case management arrangement between New Brunswick and federal health authorities, when experts from the CJDSS unit – which provides surveillance for "all types of human prion disease in Canada" – noticed a significant number of NB referrals had "some common symptoms and similar ...
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 .
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Symptoms onset any time from birth to adulthood. [5] The earlier the disease onset, the greater the variety of possible signs and symptoms. [citation needed] Thus, various diagnostic classifications based on the age of onset/severity of the disease have been proposed, although DM1 manifestations likely lie on a continuum. [7]
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 the normal function of the protein encoded by the affected gene.
(Deep brain stimulation is used to treat patients with Parkinson’s disease and other afflictions.) Read more:Column: Trump's vice presidential show and Kennedy's kamikaze mission.