Paralisia bulbar progressiva juvenil doença de Fazio-Londe: relato de caso

Batista, Bianca H.; Almeida, Alexandre Oliveira; Nunes, Magda Lahorgue; Pitrez, Paulo Márcio; Ehlers, João Arthur

doi:10.1590/s0004-282x2002000500026

Cited by 3 publications

(2 citation statements)

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“…PBP can be divided into childhood-and adult-onset forms [6]. The childhood-onset form, also called Fazio-Londe disease, is an autosomal recessive disease associated with progressive impairment of the cranial nerves with two clinical subtypes-an early course, typically starting before the age of 6 years with mainly respiratory symptoms, and a late course starting between 6 and 20 years with mainly motor symptoms in the upper limbs [7]. The adult-onset form attacks the bulbar region and clinically presents with swallowing, speaking, and chewing difficulties [8].…”

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confidence: 99%

Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing

Jankovska

Matěj

2021

Diagnostics

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Despite an early understanding of amyotrophic lateral sclerosis (ALS) as a disease affecting the motor system, including motoneurons in the motor cortex, brainstem, and spinal cord, today, many cases involving dementia and behavioral disorders are reported. Therefore, we currently divide ALS not only based on genetic predisposition into the most common sporadic variant (90% of cases) and the familial variant (10%), but also based on cognitive and/or behavioral symptoms, with five specific subgroups of clinical manifestation—ALS with cognitive impairment, ALS with behavioral impairment, ALS with combined cognitive and behavioral impairment, the fully developed behavioral variant of frontotemporal dementia in combination with ALS, and comorbid ALS and Alzheimer’s disease (AD). Generally, these cases are referred to as amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD). Clinical behaviors and the presence of the same pathognomonic deposits suggest that FTLD and ALS could be a continuum of one entity. This review was designed primarily to compare neuropathological findings in different types of ALS relative to their characteristic locations as well as the immunoreactivity of the inclusions, and thus, foster a better understanding of the immunoreactivity, distribution, and morphology of the pathological deposits in relation to genetic mutations, which can be useful in specifying the final diagnosis.

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Section: Introductionmentioning

confidence: 99%

Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing

Jankovska

Matěj

2021

Diagnostics

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“…A Paralisia Bulbar Progressiva (PBP) é um distúrbio neurológico, também conhecido como paralisia glosso-labio-laringea, e descrito atualmente como paralisa bulbar, devido a sua localização de lesão anatômica, existente na parte superior da medula espinhal (Robinson, 1878). É uma doença rara, degenerativa e progressiva, que atinge ambos os sexos (Batista et al, 2002). Com predomínio no sexo feminino (Chieia, 2005).…”

Section: Introductionunclassified

PARALISIA BULBAR PROGRESSIVA (PBP): relato de caso

2020

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Motor neuron disease is a term used in several clinical syndromes, among them Progressive Bulbar Paralysis, a rare degenerative and progressive disease of rapid evolution and loss of early respiratory muscle strength. The characteristics are dysphonia, dysphagia, dysarthria, inability in bronchial hygiene, wheezing breaths and atrophy of the tongue musculature, affecting chewing, the grinding of food is increasingly difficult, affecting chewing, causing a potentially disabling and debilitating disease. This study aimed to describe a clinical case of an individual with a clinical diagnosis of Progressive Bulbar Paralysis in Propaedeutics at the Clinical School of the Faculty of the Alto Paranaíba-MG region. The object of study was a 57-year-old male, who underwent an initial physical therapy evaluation and was collected with maximum physiological pressure: maximum inspiratory pressure, maximum expiratory pressure, Borg CR-10 scale, heart rate (HR), respiratory pressure (RF), systolic blood pressure (SBP), diastolic blood pressure (DBP), peripheral oxygen saturation (SPO2). Then, follow a course of action in accordance with the provisions of the literature on the performance of the disease. The results found in this study are satisfactory, for all eight variables analyzed, with the possibility of highlighting the variable Borg CR-10 as the most satisfactory variable compared.

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Progressive bulbur paralysis(Fazio-Londe disease)

et al. 2004

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Progressive bulbar paralysis of childhood is characterised by progressive paralysis of muscles innervated by cranial nerves. The authors report a case of progressive bulbar paralysis of childhood in a 12-year-old child. Child was admitted with the complaints of drooping of eyelids, difficulty in swallowing and hoarse voice. She had involvement of III, VII, IX, X, XI and XII cranial nerves and the corticospinal tracts. Electromyography revealed spontaneous activity in the form of fasciculations, giant motor unit potential and discrete recruitment of motor neurons suggestive of denervation pattern. Hearing assessment was normal. Muscle biopsy was also suggestive of neurogenic atrophy.

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Paralisia bulbar progressiva juvenil doença de Fazio-Londe: relato de caso

Cited by 3 publications

References 7 publications

Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing

Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing

PARALISIA BULBAR PROGRESSIVA (PBP): relato de caso

Progressive bulbur paralysis(Fazio-Londe disease)

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