Kennedy's disease.
نویسندگان
چکیده
Kennedy's disease is an X-linked, neurodegenerative disorder, characterised by lower motor neuron syndrome. This report gives the clinical details of six male patients with Kennedy's disease diagnosed at Princess Margaret Hospital. Three were initially diagnosed with other neurological diseases, with the diagnosis of Kennedy's disease made after genetic testing. This hereditary disease should be considered in male patients with muscle weakness, particularly those with a presentation suggesting atypical motor neuron disease.
منابع مشابه
Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report.
We described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease. However, a genetic study performed later was found to be negative...
متن کاملTremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)
OBJECTIVE To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in ...
متن کاملPartial Edentulism based on Kennedy's classifcation: an epidemiological study.
BACKGROUND The aim of this study was to determine the incidence of different Kennedy's classes of partial edentulism during 18 months period. MATERIALS AND METHODS Patients were clinically examined for various Kennedy's classes of partial edentulism in the outpatient department (OPD), prosthodontics, GPRDCH, Kurnool (Andhra Pradesh). RESULTS Of the total 1,420 OPD patients, Kennedy's class ...
متن کاملMuscle Matters in Kennedy’s Disease
Polyglutamine expansion in the androgen receptor causes Kennedy's disease. Two recent reports, Cortes et al. (2014) in this issue of Neuron and Lieberman et al. (2014) in Cell Reports, raise the possibility that targeting expression of the mutant protein in skeletal muscle, instead of the nervous system, may mitigate manifestations of this disorder.
متن کامل[Kennedy disease in Peru: first cases with molecular diagnosis].
Kennedy's disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological ...
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ورودعنوان ژورنال:
- Hong Kong medical journal = Xianggang yi xue za zhi
دوره 9 3 شماره
صفحات -
تاریخ انتشار 2003