Neurogenic Muscle Pathology

Vogel, Hannes

doi:10.1002/9781118635469.ch5

Cited by 4 publications

(1 citation statement)

References 31 publications

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“…Однако повышение уровня креатинкиназы часто невозможно объяснить только нейрогенными изменениями, что оставляет открытым вопрос об участии первичномышечных изменений в патогенезе болезни [15,[18][19][20][21][22]. Первично-мышечные изменения также описаны и при спинальной мышечной амиотрофии III типа [23], что еще больше подчеркивает необходимость изучения характера мышечных изменений при наследственных болезнях, связанных с вовлечением мотонейронов спинного мозга.…”

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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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Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy

Jokela

Udd

2015

J Mol Neurosci

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Kennedy's disease or spinal and bulbar muscular atrophy (SBMA) is a multi-system disorder affecting adult males, which is characterized by weakness of limbs and faciobulbar muscles primarily due to loss of lower motor neurons. Besides the obvious motor neuronopathy, additional findings in a substantial proportion of SBMA patients include sensory neuropathy and signs of androgen deficiency, such as poor sexual functioning and reduced fertility with gynaecomastia. The presence of elevated glucose, liver pathology or dyslipidaemia is less consistent features. We review the striking clinical, electrodiagnostic and muscle pathology features characteristic of Kennedy's disease, which has some peculiar and diagnostically useful features not observed in many other neuromuscular disorders.

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Skeletal Muscle

Gultekin¹,

Beckett²

2017

Neuropathologic and Neuroradiologic Correlations

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Neurogenic Muscle Pathology

Cited by 4 publications

References 31 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

Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy

Skeletal Muscle

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