2011
DOI: 10.1590/s1807-59322011000600006
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Abstract: 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 the androgen receptor gene.RESULTS:Mean patient age was 37.6 years and mean number of CAG repeats 47 (44-53). Tremor was … Show more

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Cited by 14 publications
(26 citation statements)
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References 14 publications
(12 reference statements)
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“…In support of this, in SBMA tremor frequency is affected by postural changes and weight loading, suggesting that it might be considered a reflex tremor, mediated through reflex loops between peripheral nerves and the central nervous system, similar to the stretch reflex 7. In addition, the presence of sensory neuropathy in some patients might also contribute to reflex tremor 2. On the other hand, because motor units are markedly decreased in SBMA, the muscle spindle feedback might also play an important role in the generation of tremor due to motor unit synchronization 7.…”
Section: Discussionmentioning
confidence: 82%
See 1 more Smart Citation
“…In support of this, in SBMA tremor frequency is affected by postural changes and weight loading, suggesting that it might be considered a reflex tremor, mediated through reflex loops between peripheral nerves and the central nervous system, similar to the stretch reflex 7. In addition, the presence of sensory neuropathy in some patients might also contribute to reflex tremor 2. On the other hand, because motor units are markedly decreased in SBMA, the muscle spindle feedback might also play an important role in the generation of tremor due to motor unit synchronization 7.…”
Section: Discussionmentioning
confidence: 82%
“…The other half may present with fasciculations, minimal distal weakness, muscle cramps, tremor, and elevated CPK later in life 2. Treatment is symptomatic, and muscular cramps may respond to tizanidine, baclofen, gabapentin, valproic acid, and quinine 4.…”
Section: Discussionmentioning
confidence: 99%
“…Hand tremor is usually a postural high frequency tremor possibly resulting in impairment of daily activities, such as writing, cutting or eating [12] [13]. Postural leg tremor has been described in a small number of patients and in a single study it seems to correlate with the number of CAG repeats in the AR gene [14].…”
Section: Clinical Featuresmentioning
confidence: 99%
“…A fraqueza está associada a câimbras, espasmos musculares, atrofia, fadiga, fasciculações, tremores finos em extremidades e tremores posturais. Também se observam alterações endócrinas (ginecomastia, atrofia testicular e oligospermia), disfagia, disartria, hiporreflexia e, em alguns casos, alterações somatossensorias e declínio cognitivo Estas alterações interferem diretamente na funcionalidade e qualidade de vida desses indivíduos [4][5][6][7].…”
Section: Introductionunclassified