Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben.

Translated title of the contribution: Kennedy disease in a patient with progressive speech disorder

J. Kárteszi, Eva Morava-Kozicz, M. Czakó, I. Gáti, J. Czopf, G. Kosztolányi, B. Melegh

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Kennedy disease is an adult onset neuromuscular disease characterized by slowly progressive proximal and bulbar muscle weakness. The disease associates with gynecomastia, adult onset infertility and sensory neuropathy, and caused by pathologic expansion of CAG repeats at the N-terminal region of the androgen-receptor gene at Xq11-q12. We report on a patient presenting with slowly progressive muscle weakness of the lower extremities, progressive dysartry and swallowing difficulties. The clinical symptoms were not fully specific for the disease. Moreover the family history was suggestive for an autosomal dominant trait meaning a diagnostic pitfall at the original examination. Finally the firm diagnosis of the Kennedy disease was established by a polimerase chain reaction based method.

Original languageHungarian
Pages (from-to)1915-1917
Number of pages3
JournalOrvosi Hetilap
Volume142
Issue number35
StatePublished - Sep 2 2001
Externally publishedYes

Fingerprint

X-Linked Bulbo-Spinal Atrophy
Speech Disorders
Muscle Weakness
Gynecomastia
Neuromuscular Diseases
Androgen Receptors
Deglutition
Infertility
Lower Extremity
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kárteszi, J., Morava-Kozicz, E., Czakó, M., Gáti, I., Czopf, J., Kosztolányi, G., & Melegh, B. (2001). Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben. Orvosi Hetilap, 142(35), 1915-1917.

Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben. / Kárteszi, J.; Morava-Kozicz, Eva; Czakó, M.; Gáti, I.; Czopf, J.; Kosztolányi, G.; Melegh, B.

In: Orvosi Hetilap, Vol. 142, No. 35, 02.09.2001, p. 1915-1917.

Research output: Contribution to journalArticle

Kárteszi, J, Morava-Kozicz, E, Czakó, M, Gáti, I, Czopf, J, Kosztolányi, G & Melegh, B 2001, 'Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben.', Orvosi Hetilap, vol. 142, no. 35, pp. 1915-1917.
Kárteszi J, Morava-Kozicz E, Czakó M, Gáti I, Czopf J, Kosztolányi G et al. Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben. Orvosi Hetilap. 2001 Sep 2;142(35):1915-1917.
Kárteszi, J. ; Morava-Kozicz, Eva ; Czakó, M. ; Gáti, I. ; Czopf, J. ; Kosztolányi, G. ; Melegh, B. / Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben. In: Orvosi Hetilap. 2001 ; Vol. 142, No. 35. pp. 1915-1917.
@article{df8b7944cedd4363ade969f41f26f059,
title = "Kennedy-betegs{\'e}g egy progressz{\'i}v besz{\'e}dzavarban szenved{\'o} f{\'e}rfiben.",
abstract = "Kennedy disease is an adult onset neuromuscular disease characterized by slowly progressive proximal and bulbar muscle weakness. The disease associates with gynecomastia, adult onset infertility and sensory neuropathy, and caused by pathologic expansion of CAG repeats at the N-terminal region of the androgen-receptor gene at Xq11-q12. We report on a patient presenting with slowly progressive muscle weakness of the lower extremities, progressive dysartry and swallowing difficulties. The clinical symptoms were not fully specific for the disease. Moreover the family history was suggestive for an autosomal dominant trait meaning a diagnostic pitfall at the original examination. Finally the firm diagnosis of the Kennedy disease was established by a polimerase chain reaction based method.",
author = "J. K{\'a}rteszi and Eva Morava-Kozicz and M. Czak{\'o} and I. G{\'a}ti and J. Czopf and G. Kosztol{\'a}nyi and B. Melegh",
year = "2001",
month = "9",
day = "2",
language = "Hungarian",
volume = "142",
pages = "1915--1917",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "35",

}

TY - JOUR

T1 - Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben.

AU - Kárteszi, J.

AU - Morava-Kozicz, Eva

AU - Czakó, M.

AU - Gáti, I.

AU - Czopf, J.

AU - Kosztolányi, G.

AU - Melegh, B.

PY - 2001/9/2

Y1 - 2001/9/2

N2 - Kennedy disease is an adult onset neuromuscular disease characterized by slowly progressive proximal and bulbar muscle weakness. The disease associates with gynecomastia, adult onset infertility and sensory neuropathy, and caused by pathologic expansion of CAG repeats at the N-terminal region of the androgen-receptor gene at Xq11-q12. We report on a patient presenting with slowly progressive muscle weakness of the lower extremities, progressive dysartry and swallowing difficulties. The clinical symptoms were not fully specific for the disease. Moreover the family history was suggestive for an autosomal dominant trait meaning a diagnostic pitfall at the original examination. Finally the firm diagnosis of the Kennedy disease was established by a polimerase chain reaction based method.

AB - Kennedy disease is an adult onset neuromuscular disease characterized by slowly progressive proximal and bulbar muscle weakness. The disease associates with gynecomastia, adult onset infertility and sensory neuropathy, and caused by pathologic expansion of CAG repeats at the N-terminal region of the androgen-receptor gene at Xq11-q12. We report on a patient presenting with slowly progressive muscle weakness of the lower extremities, progressive dysartry and swallowing difficulties. The clinical symptoms were not fully specific for the disease. Moreover the family history was suggestive for an autosomal dominant trait meaning a diagnostic pitfall at the original examination. Finally the firm diagnosis of the Kennedy disease was established by a polimerase chain reaction based method.

UR - http://www.scopus.com/inward/record.url?scp=0035797792&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035797792&partnerID=8YFLogxK

M3 - Article

C2 - 11601179

AN - SCOPUS:0035797792

VL - 142

SP - 1915

EP - 1917

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 35

ER -