Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene
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https://hdl.handle.net/10037/24342Dato
2021-10-19Type
Journal articleTidsskriftartikkel
Peer reviewed
Forfatter
Müller, Kai Ivar; Nilssen, Øivind; Nebuchenykh, Maria; Løseth, Sissel; Jonsrud, Christoffer; Hoem, Gry; Van Ghelue, Marijke; Arntzen, Kjell ArneSammendrag
We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They were referred to a neurologist for further evaluation. Both reported similar symptoms with chronic backache, pain and cramps in upper- and lower extremities, and fasciculations in their faces and extremities. Neurological examination demonstrated postural hand tremor in both and EMG revealed chronic neurogenic changes. Reevaluation of the patients at ages 74 and 83 showed slight progression of clinical manifestations. As opposed to male patients, these two females showed minimal disease progression and have maintained normal level of function into old age.
Forlag
ElsevierSitering
Müller, Nilssen, Nebuchenykh, Løseth, Jonsrud, Hoem, Van Ghelue, Arntzen. Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene. Neuromuscular Disorders. 2021:1-5Metadata
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