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Adult-onset spinal muscular atrophy: An update.
Juntas Morales R, Pageot N, Taieb G, Camu W. Juntas Morales R, et al. Rev Neurol (Paris). 2017 May;173(5):308-319. doi: 10.1016/j.neurol.2017.03.015. Epub 2017 Apr 26. Rev Neurol (Paris). 2017. PMID: 28456383 Review.
Advances in our understanding of the pathophysiology of the most frequent forms, SMA linked to SMN1 gene mutations and Kennedy disease, has led to the development of therapeutic strategies currently being tested in clinical trials. This report provides a general ove …
Advances in our understanding of the pathophysiology of the most frequent forms, SMA linked to SMN1 gene mutations and Kennedy dis …
Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.
Baskar D, Veeramani-Kumar P, Polavarapu K, Nashi S, Vengalil S, Menon D, Thomas A, Bhargava Sanka S, Muddasu Suhasini K, Huddar A, Unnikrishnan G, Bardhan M, Thomas PT, Manjunath N, Atchayaram N. Baskar D, et al. Intern Med J. 2024 Mar;54(3):455-460. doi: 10.1111/imj.16205. Epub 2023 Aug 14. Intern Med J. 2024. PMID: 37578398
BACKGROUND: Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. ...
BACKGROUND: Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. ...
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.
Müller KI, Nilssen Ø, Nebuchenykh M, Løseth S, Jonsrud C, Hoem G, Van Ghelue M, Arntzen KA. Müller KI, et al. Neuromuscul Disord. 2022 Jan;32(1):75-79. doi: 10.1016/j.nmd.2021.11.007. Epub 2021 Nov 19. Neuromuscul Disord. 2022. PMID: 34922802 Free article.
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 Kenned …
We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causin …
Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan.
Fu SC, Kuo HC, Chu CC, Wu YR, Ro LS, Liu CS, Huang CC. Fu SC, et al. J Formos Med Assoc. 2013 Jun;112(6):326-31. doi: 10.1016/j.jfma.2012.03.008. Epub 2012 Jun 6. J Formos Med Assoc. 2013. PMID: 23787009 Free article.
BACKGROUND/PURPOSE: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. ...
BACKGROUND/PURPOSE: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative diso …
Dysphagia in X-linked bulbospinal muscular atrophy (Kennedy disease).
Warnecke T, Oelenberg S, Teismann I, Suntrup S, Hamacher C, Young P, Ringelstein EB, Dziewas R. Warnecke T, et al. Neuromuscul Disord. 2009 Oct;19(10):704-8. doi: 10.1016/j.nmd.2009.06.371. Epub 2009 Jul 17. Neuromuscul Disord. 2009. PMID: 19616433
Dysphagia in X-linked bulbospinal muscular atrophy (Kennedy disease) has never been characterized in detail by objective swallowing studies. We assessed the nature of swallowing impairment in Kennedy disease by undertaking fiberoptic endoscopic evaluat …
Dysphagia in X-linked bulbospinal muscular atrophy (Kennedy disease) has never been characterized in detail by objective swall …
Men with Kennedy disease have a reduced risk of androgenetic alopecia.
Sinclair R, Greenland KJ, Egmond Sv, Hoedemaker C, Chapman A, Zajac JD. Sinclair R, et al. Br J Dermatol. 2007 Aug;157(2):290-4. doi: 10.1111/j.1365-2133.2007.08026.x. Epub 2007 Jun 26. Br J Dermatol. 2007. PMID: 17596176
BACKGROUND: Spinal and bulbar muscular atrophy or Kennedy disease (KD) is an X-linked neurodegenerative disease caused by an expansion of a polymorphic tandem CAG repeat within the androgen receptor (AR) gene on chromosomal locus Xq11-q12. ...
BACKGROUND: Spinal and bulbar muscular atrophy or Kennedy disease (KD) is an X-linked neurodegenerative disease caused by an e …
Kennedy disease misdiagnosed as polymyositis: a case report.
Harutunian GM, Beydoun SR, Rison RA. Harutunian GM, et al. BMC Res Notes. 2013 Sep 28;6:389. doi: 10.1186/1756-0500-6-389. BMC Res Notes. 2013. PMID: 24073646 Free PMC article.
Dysphagia and neck flexor weakness can develop along with respiratory muscle weakness as the disease progresses. Kennedy disease or X-linked spinobulbar muscular atrophy is a rare X-linked recessive disorder with clinical features of slowly progressive atrophy and w …
Dysphagia and neck flexor weakness can develop along with respiratory muscle weakness as the disease progresses. Kennedy disease …
A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland.
Lefter S, Hardiman O, Ryan AM. Lefter S, et al. Neurology. 2017 Jan 17;88(3):304-313. doi: 10.1212/WNL.0000000000003504. Epub 2016 Dec 7. Neurology. 2017. PMID: 27927941
Disease-specific PR include chronic inflammatory demyelinating polyradiculoneuropathy 5.87/100,000 (95% CI 5.06-6.68), Charcot-Marie-Tooth 10.52/100,000 (95% CI 9.44-11.61), hereditary neuropathy with liability to pressure palsies 0.84/100,000 (95% CI 0.54-1.15), myotonic dystrop …
Disease-specific PR include chronic inflammatory demyelinating polyradiculoneuropathy 5.87/100,000 (95% CI 5.06-6.68), Charcot-Marie-Tooth 1 …
22 results