Kennedy's disease.

IF 2.4 Q2 CLINICAL NEUROLOGY
Helen Devine, Matthew Solomons, Luca Zampedri, Michael G Hanna, Carlo Rinaldi, Pietro Fratta, Dipa Jayaseelan
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引用次数: 0

Abstract

A 57-year-old man developed worsening early morning headaches, muscle cramps and falls over 12 months. He had widespread fasciculation and was diagnosed with motor neurone disease, and treated with nocturnal hypoventilation. Based on this diagnosis, he made significant personal and financial decisions including retiring and selling his house. He subsequently developed a lump in his right breast and was found to have gynaecomastia. This triggered genetic testing for Kennedy's disease leading to the correct diagnosis. This case highlights an unusual presentation of a rare disease leading to misdiagnosis and major repercussions for the patient. Recent genetic analysis from the 100 000 genome project suggests Kennedy's disease may be four times more prevalent in the population than previously thought, highlighting the need to consider genetic testing, especially if there is a suggestion of multisystem disease.

肯尼迪病
一名 57 岁的男子在 12 个月内出现了日益严重的清晨头痛、肌肉痉挛和跌倒。他有广泛的筋膜痉挛,被诊断为运动神经元疾病,并接受了夜间低通气治疗。根据诊断结果,他做出了重大的个人和财务决定,包括退休和卖房。随后,他的右乳房出现肿块,并被发现患有妇科乳腺增生症。这引发了肯尼迪病的基因检测,最终确诊为肯尼迪病。该病例突出显示了一种罕见疾病的不寻常表现,导致误诊并给患者带来重大影响。100 000 基因组项目最近的基因分析表明,肯尼迪病在人群中的发病率可能比以前认为的高四倍,这突出表明有必要考虑进行基因检测,尤其是在出现多系统疾病的情况下。
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来源期刊
PRACTICAL NEUROLOGY
PRACTICAL NEUROLOGY Medicine-Neurology (clinical)
CiteScore
3.70
自引率
3.60%
发文量
113
期刊介绍: The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.
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