X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report

Kouyoumdjian, João Aris; Morita, Maria da Penha Ananias; Araújo, Rogério Gayer Machado de

doi:10.1590/s0004-282x2005000100028

Cited by 9 publications

(3 citation statements)

References 9 publications

(15 reference statements)

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“…Несмотря на то, что основные изменения при СБМА связаны с дегенерацией нижних мотонейронов и двигательных ядер V, X, IX, XII пар черепных нервов, у больных могут обнаруживаться признаки сенсорной нейропатии. Чувствительные расстройства обнаруживаются в более чем 50 % случаях на развернутых стадиях болезни и подтверждаются электрофизиологическими методами [3,4,12,13]. У наблюдаемого нами пациента не было признаков сенсорной нейропатии, что, скорее всего, связано с относительно благополучным состоянием и малой продолжительностью наблюдения.…”

Section: Discussionunclassified

Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report

Никитин

Григорьева

Машкович

et al. 2020

Neuromuscular Diseases

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A clinical description of a 28-year-old man with spinal and bulbar muscular atrophy diagnosed on the basis of the CAG-trinucleotide expansion in the gene coding androgen receptor is presented. He exhibited skeletal muscles and tongue fasciculations, gynecomastia, increased serum testosterone and creatine kinase levels. The peculiarities of the case were the gynecomastia under the age of 7, development of fasciculations at the age of 11 and appearance of hard muscle stiffness with delayed muscle relaxation after voluntary contraction at the age of 15, which resembled typical myotonia. Electromyography showed few signs of mild without myotonic discharge, contrasting with giant motor unit potentials and reduced recruitment. The cause of myotonia-like symptom without myotonic discharge as a feature of skeletal muscles disorder is discussed with the modern view of spinal and bulbar muscular atrophy as a multisystem genetic pathology.

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Section: Discussionunclassified

Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report

Никитин

Григорьева

Машкович

et al. 2020

Neuromuscular Diseases

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“…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

“…Sua grande abrangência, porém, é um dos maiores desafios em relação ao seu uso prático. Para aumentar a aplicabilidade dessa classificação, foram desenvolvidos os Core Sets, domínios da CIF que são específicos para determinadas condições de saúde e que descrevem resumidamente as abordagens de funcionalidade e incapacidade [5,12,13].…”

Section: Introductionunclassified

Avaliação da funcionalidade de indivíduos de uma mesma família com doença de Kennedy

Feronatto

Oro

Fassina

et al. 2017

Sci Med

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Este artigo está licenciado sob forma de uma licença Creative Commons Atribuição 4.0 Internacional, que permite uso irrestrito, distribuição e reprodução em qualquer meio, desde que a publicação original seja corretamente citada. ABSTRACT AIMS: To assess the functionality of individuals of a same family who present Kennedy's disease, and to compare it with the results obtained after one year and a half to verify the evolution of the disease. METHODS: Case series, in which six individuals with Kennedy's disease were evaluated in two moments separated by one year and a half. The instrument used was the Core Set for International Classification of Functioning, Disability and Health for neuromuscular diseases. This structured questionnaire seeks information on health domains, functional situations and their restrictions. The data were analyzed in SPSS version 20.0, with descriptive analysis. RESULTS: After one year and a half the body function components worsened, with consequent decline in function, demonstrated in the activity and participation component. Only one domain of the body function component had improvement in the second evaluation. During the evaluation period, several facilitating environmental factors (bars or stair rails, internal bars in residences, ramps, health plan, gaiters, automobile, telephone and electronic gate) remained. However, the magnitude of the deficiency of some products and supporting technologies (stairs and bathroom without bars) increased, which may have impaired the functionality of these individuals. CONCLUSIONS: Functionality was altered in individuals with Kennedy's disease, and the disease progression has accentuated the deficiency in the components of the International Classification of Functionality after one year and a half. There was a lack of some supporting products and technologies to personal use in daily life.

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Fasciculations in human hereditary disease

Finsterer

2014

Acta Neurol Belg

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Fasciculations are a manifestation of peripheral nerve hyperexcitability in addition to myokymia, neuromyotonia, cramps, or tetany. Fasciculations occur in hereditary and non-hereditary diseases. Among the hereditary diseases, fasciculations are most frequently reported in familial amyotrophic lateral sclerosis (FALS), and spinal muscular atrophy (SMA). Among the non-hereditary diseases, fasciculations occur most frequently in peripheral nerve hyperexcitability syndromes (Isaac's syndrome, voltage-gated potassium channelopathy, cramp fasciculation syndrome, Morvan syndrome). If the cause of fasciculations remains unknown, they are called benign. Systematically reviewing the literature about fasciculations in hereditary disease shows that fasciculations can be a phenotypic feature in bulbospinal muscular atrophy (BSMA), GM2-gangliosidosis, triple-A syndrome, or hereditary neuropathy. Additionally, fasciculations have been reported in familial amyloidosis, spinocerebellar ataxias, Huntington's disease, Rett syndrome, central nervous system disease due to L1-cell adhesion molecule (L1CAM) mutations, Fabry's disease, or Gerstmann-Sträussler disease. Rarely, fasciculations may be a phenotypic feature in patients with mitochondrial disorders or other myopathies. Fasciculations are part of the phenotype in much more genetic disorders than commonly assumed. Fasciculations not only occur in motor neuron disease, but also in hereditary neuropathy, spinocerebellar ataxia, GM2-gangliosidosis, Huntington's disease, Rett syndrome, Fabry's disease, Gerstmann-Sträussler disease, mitochondrial disorders, or muscular dystrophies.

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X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report

Cited by 9 publications

References 9 publications

Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report

Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report

Avaliação da funcionalidade de indivíduos de uma mesma família com doença de Kennedy

Fasciculations in human hereditary disease

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