THE FIRST FAMILY WITH KENNEDY DISEASE REPORTED FROM IRAN

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ZAMANI B.; HOUSHMAND M.; SIAVASH DASTJERDI M.; SHIRKOOL K.; NOJOUMI MARZIEH; MOGHADASI MAHDI

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Journal Paper

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2004 | Volume:7 | Issue:3 Page(s): 228-231

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Title

THE FIRST FAMILY WITH KENNEDY DISEASE REPORTED FROM IRAN

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Keywords

BULBOSPINAL MUSCULAR ATROPHY · KENNEDY DISEASE · KENNEDY SYNDROME

Abstract

Kennedy disease is a rare X-linked, recessively-inherited disorder, which is diagnosed on the basis of clinical and electromyographic (EMG) findings, and more recently by polymerase chain reaction (PCR). The disease has been reported from around the world. Here, we present 8 members of an Iranian family afflicted with the disease. The diagnosis was supported by PCR findings in 3 while in 5 cases the diagnosis was made based on clinical and EMG findings only. The patients, all males, ranged in age from 20 to 85 years with the onset of gynecomastia during early adulthood and other more specific symptoms during the 5th and 6th decades of life with gradual onset and progression. The symptoms and signs included cramps, generalized weakness, dysphagia, dysphonia, tongue atrophy, tremor, generalized muscle atrophy, fasciculation, areflexia, and impotence. Four of them had hyperlipidemia and 3 had increased levels of blood glucose including one with frank diabetes mellitus. PCR, performed in 3 of the patients, showed an increase in cytosine-adenine-guanine (CAG) repeats on the long arm of X chromosome. Two heterozygote female carriers were diagnosed by the same test. It is important to consider Kennedy disease in the differential diagnosis of lower motor neuron disorders considering its rather benign course and the need for genetic consultation for carriers.

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APA: Copy

ZAMANI, B., HOUSHMAND, M., SIAVASH DASTJERDI, M., SHIRKOOL, K., NOJOUMI, MARZIEH, & MOGHADASI, MAHDI. (2004). THE FIRST FAMILY WITH KENNEDY DISEASE REPORTED FROM IRAN. ARCHIVES OF IRANIAN MEDICINE, 7(3), 228-231. SID. https://sid.ir/paper/279837/en

Vancouver: Copy

ZAMANI B., HOUSHMAND M., SIAVASH DASTJERDI M., SHIRKOOL K., NOJOUMI MARZIEH, MOGHADASI MAHDI. THE FIRST FAMILY WITH KENNEDY DISEASE REPORTED FROM IRAN. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2004;7(3):228-231. Available from: https://sid.ir/paper/279837/en

IEEE: Copy

B. ZAMANI, M. HOUSHMAND, M. SIAVASH DASTJERDI, K. SHIRKOOL, MARZIEH NOJOUMI, and MAHDI MOGHADASI, “THE FIRST FAMILY WITH KENNEDY DISEASE REPORTED FROM IRAN,” ARCHIVES OF IRANIAN MEDICINE, vol. 7, no. 3, pp. 228–231, 2004, [Online]. Available: https://sid.ir/paper/279837/en

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