Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)
نویسندگان
چکیده
منابع مشابه
Tremor 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 کاملHead and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy
BACKGROUND X-linked spinal and bulbar muscular atrophy (SBMA) is a rare adult-onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation is exceedingly rare. Our aim was to describe/document the characteristic signs of tremor in spinal and bulbar muscular atrophy. CASE REPORT We ...
متن کاملX-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report.
X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progres...
متن کاملNonalcoholic fatty liver disease in spinal and bulbar muscular atrophy
OBJECTIVE To determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA). METHODS Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were...
متن کاملSpinal and bulbar muscular atrophy: a motoneuron or muscle disease?
Kennedy disease (KD, or spinal and bulbar muscular atrophy) is caused by a CAG/polyglutamine expansion in the androgen receptor (AR) gene. Both motoneurons and muscles are affected by KD, but where mutant ARs act to initiate this disease is not clear. We discuss recent insights into this disease with two main themes. (1) KD is androgen-dependent, suggesting that blocking androgen action may be ...
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ژورنال
عنوان ژورنال: Clinics
سال: 2011
ISSN: 1807-5932
DOI: 10.1590/s1807-59322011000600006