Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease
Kennedy′s disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter′s syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and az...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Annals of Indian Academy of Neurology |
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| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=3;spage=227;epage=229;aulast=Jiménez |
| _version_ | 1818173536977551360 |
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| author | Pedro Enrique Jiménez Caballero |
| author_facet | Pedro Enrique Jiménez Caballero |
| author_sort | Pedro Enrique Jiménez Caballero |
| collection | DOAJ |
| description | Kennedy′s disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter′s syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and azoospermia, and the most frequent karyotype is XXY. A 55-year-old man who presented with slowly progressive and diffuse neurogenic muscle atrophy without bulbar or sensory symptoms. He also had Klinefelter′s syndrome. Genetic study of Kennedy′s disease was normal. Our patient differs from those with Kennedy′s disease in the absence of bulbar and sensory symptoms. It is suggested that the X chromosome plays an important role in the biology of motor neurons. |
| first_indexed | 2024-12-11T19:30:04Z |
| format | Article |
| id | doaj.art-b3e21bf747684bdb8dc4b84fae6aea80 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-12-11T19:30:04Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-b3e21bf747684bdb8dc4b84fae6aea802022-12-22T00:53:18ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492012-01-0115322722910.4103/0972-2327.99730Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s diseasePedro Enrique Jiménez CaballeroKennedy′s disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter′s syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and azoospermia, and the most frequent karyotype is XXY. A 55-year-old man who presented with slowly progressive and diffuse neurogenic muscle atrophy without bulbar or sensory symptoms. He also had Klinefelter′s syndrome. Genetic study of Kennedy′s disease was normal. Our patient differs from those with Kennedy′s disease in the absence of bulbar and sensory symptoms. It is suggested that the X chromosome plays an important role in the biology of motor neurons.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=3;spage=227;epage=229;aulast=JiménezElectromyogramgynecomastiaKlinefelter′s syndromeKennedy′s diseasemuscle biopsyprogressive muscular atrophy |
| spellingShingle | Pedro Enrique Jiménez Caballero Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease Annals of Indian Academy of Neurology Electromyogram gynecomastia Klinefelter′s syndrome Kennedy′s disease muscle biopsy progressive muscular atrophy |
| title | Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease |
| title_full | Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease |
| title_fullStr | Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease |
| title_full_unstemmed | Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease |
| title_short | Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease |
| title_sort | klinefelter s syndrome associated with progressive muscular atrophy simulating kennedy s disease |
| topic | Electromyogram gynecomastia Klinefelter′s syndrome Kennedy′s disease muscle biopsy progressive muscular atrophy |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=3;spage=227;epage=229;aulast=Jiménez |
| work_keys_str_mv | AT pedroenriquejimenezcaballero klinefelterssyndromeassociatedwithprogressivemuscularatrophysimulatingkennedysdisease |