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Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and ...
Orobulbar issues appear to be highly prevalent among patients with spinal muscular atrophy despite patients' poor perception of symptoms, a study found.
Bulbar palsy refers to a range of different signs and symptoms linked to impairment of function of the glossopharyngeal nerve (CN IX), the vagus nerve (CN X), the accessory nerve (CN XI), and the hypoglossal nerve (CN XII). It is caused by a lower motor neuron lesion in the medulla oblongata, or from lesions to these nerves outside the brainstem, and also botulism. This may be caused by any of ...
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Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach
Amyotrophic Lateral Sclerosis (ALS) is a diverse neurodegenerative disorder affecting motor neurons, with ALS6 specifically linked to FUS gene mutations. This case report underscores the intricate diagnostic challenges posed by ALS6 when orobulbar dysfunction takes a prominent role and younger age of onset. The 26-year-old Indian patient exhibited a six- month history of orobulbar difficulties ...
Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing ...
Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing in children and adults with SMA, sitters and walkers. In a 2-year multicentre cross-sectional prospective study, lip and tongue strength (Iowa ...
Assessing Prevalence and Characteristics of Oro‐bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach Federica Trucco1,2,3 · Francesca Salmin4 · Andrea Lizio4 · Giorgia Coratti5,6 · Emilio Albamonte4 · Maria Chiara Frisoni4 · Luca Mauro4 · Elena Carraro4 · Giovanni Palazzo4 · Jessica Lops4 · Camilla Cattaneo4 · Susanna Pozzi4 · Jacopo ...
Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing in children and adults with SMA, sitters and wa …
Background: Improvement and maintenance of bulbar function are important goals of disease-modifying treatments (DMTs) for spinal muscular atrophy (SMA), but sta...
Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and
Bulbar symptoms such as impaired swallowing and speech impairment are frequent features of amyotrophic lateral sclerosis and can markedly reduce life expectancy and quality of life. In this ...
Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN...
Bulbar impairment represents a hallmark feature of Amyotrophic Lateral Sclerosis (ALS) that significantly impacts survival and quality of life. Speech and swallowing dysfunction are key contributors to the clinical heterogeneity of ALS and require ...
Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and
BACKGROUND: Nasogastric tube feeding (NG) has been widely used in patients with bulbar palsy after ischemic stroke but is associated with a significant risk of complications including malnutrition and pneumonia. Intermittent oro-esophageal tube feeding (IOE) can help alleviate these concerns. This study explored the clinical effect of IOE versus NG on nutritional status, swallowing function ...
CHN is genetically heterogeneous and its genetic basis is difficult to determine on features alone. CNTNAP1 encodes CASPR, integral in the paranodal junction high molecular mass complex. Nineteen individuals with biallelic variants have been described in association with severe congenital hypomyelin …
ort and long-term follow-up, due to various factors. Factors contributing to variability in outcome comprise 'Dystonia Related' including dystonia classification, semiology, duration, body distribution, orthopaedic deformity, aetiology and genetic cause. The majority of these factors are identifiable from clinical assessment, brain MRI and genetic testing, and therefore merit careful ...
The definitive diagnosis was established through a compre-hensive clinical evaluation, imaging studies, and genetic analy-sis, which disclosed a SACS mutation (p.Lys2931AsnfsTer22). Neurological examination brought to light bilateral lower limb spasticity, toe muscle weakness, absent ankle reflexes, and dis-cernible cerebellar signs. Magnetic Resonance Imaging (MRI) revealed characteristic ...
Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with an atypically mild and slowly progressive disease course. Although by history there was mild gait clumsiness in early childhood, the leading ...
32 What is bulbar palsy? The bulb is the medulla, and the term bulbar palsy refers to a syndrome of lower motor neuron paralysis, affecting muscles innervated by cranial nerves (mainly IX to XII) that have their nuclei closely approximated in the lower brain stem. Muscles of the face, palate, pharynx, larynx, sternocleidomastoid, upper trapezius, and tongue are usually affected. Patients may ...
Early-onset dystonia-37 with striatal lesions (DYT37) is an autosomal recessive neurologic movement disorder characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development. The disorder is severely disabling; patients lose ambulation and ...
Learn what distinguishes psudobulbar from bulbar palsy and how treatment approaches and outlooks differ.
Dystonia can be classified as isolated or combined depending on the absence or presence of additional symptoms, respectively. This Primer discusses the epidemiology, mechanisms, diagnosis and ...
Bulbar palsy is a lower motor neuron palsy that affects the nuclei of the IXth, Xth, XIth, and XIIth cranial nerves. Pseudobulbar palsy is an upper motor neuron palsy that affects the corticobulbar...
The early clinical features of corticobasal syndrome (CBS) may include limb myoclonus, occurring in approximately 15%. 1 Isolated lingual dystonia was recently reported as a new clinical feature heralding early CBS, 2 and lingual dyskinesia is also a recognized phenomenon in CBS. 3 Here, we add a case with isolated lingual and facial myoclonus that we hypothesize as a potential sole initial ...
Progressive bulbar palsy is a MND that involves the brainstem, affecting swallowing, speaking, chewing, and other functions. The nerves affected include the glossopharyngeal, vagus, accessory, and hypoglossal nerves (see Fig. 15.6). This progressive neurological disorder disrupts the signal from the lower motor neurons to the muscles responsible for movement in the face, throat, tongue, arms ...
Bulbar Dysfunction in ICU DEFINITIONS Bulbar dysfunction = abnormal swallow and speech Swallowing reflex = complex reflex requiring different phases: oral preparatory oral voluntary pharyngeal oesophageal CAUSES Mechanical - trauma from TOE or ETT, presence of tracheostomy Structural - pouches/diverticula, tumours Myopathic - specific (MG, connective tissue disorders, myotonic dystrophy ...
Struggling with bulbar palsy symptoms? Learn about its causes, from nerve damage to diseases, and the latest treatment options available.
The patient has 2 major ongoing symptoms, the initial presenting symptom being rapidly progressive oculobulbar symptoms with subsequent diffuse areflexia. The differential diagnosis for oculobulbar symptoms includes (1) a brainstem pathology such as a metabolic derangement, infarction, infectious rhomboencephalitis, demyelinating lesion, Bickerstaff encephalitis, or tumor; (2) a neuromuscular ...
PDF | On Jan 1, 2007, P. Rosenbaum and others published The definition and classification of cerebral palsy | Find, read and cite all the research you need on ResearchGate
DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become ...
Congenital hypomyelinating neuropathy-3 is an autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development and may die in infancy or early ...
Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on …
PDF | For a variety of reasons, the definition and the classification of cerebral palsy (CP) need to be reconsidered. Modern brain imaging techniques... | Find, read and cite all the research you ...
Ischemic stroke, a clinical syndrome caused by steno-sis or occlusion of cerebral feeding arteries for various reasons, leads to localized cerebral ischemia, hypoxic necrosis of brain tissue, and corresponding neurological deficits. Characterized by its high prevalence, mortality, disability, and recurrence rate, it constitutes a significant threat to human health and life safety.1 Dysphagia ...
Bulbar and pseudobulbar syndromes refer to symptoms caused by dysfunction of the lower motor neurons that control the muscles involved in speech, swallowing, and facial movements
Bulbar palsy is the result of diseases affecting the lower cranial nerves, whereas pseudobulbar palsy results from disease of the corticobulbar tracts.
The Brown-Vialetto-Van Laere syndrome is characterized by bulbopontine paralysis and bilateral nerve deafness (Figure 128-18). The age at onset ranges from birth to adulthood, with a median of 13 years. According to Sathasivam (148) progressive hearing loss is the presenting sign in the vast majority of cases. The weakness is in the distribution of motor cranial nerves III, and VII to XII ...
Over 100 cases have been reported, from approximately 50 unrelated families of diverse ethnic groups. More than 30 distinct disease-causing mutations in the cofactor biosynthesis genes MOCO1, MOCO2, and GEPH have been identi ed [2]. The global fi incidence of molybdenum cofactor de ciency is likely to be higher fi as a result of failure to diagnose and underreporting [3].
Molybdenum cofactor deficiency predominantly affects the central nervous system. There are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features. We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency observed in our institution over 10 years. Two ...
Bulbar palsy (or bulbar weakness) tends to bilateral impairment of the function of the lower cranial nerves 9,10,11,12
Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven ...
Nerve fibres are myelinated in segments to enable high velocity conduction. This myelination occurs through the wrapping of glial cells around the nerve fibre in between the nodes of Ranvier [1 ...
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Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles ...
Cerebral palsy is a group of permanent disorders affecting movement development and limiting activity. Non-progressive disturbances that manifest in the developing fetal or infant brain can lead to cerebral palsy.[1] This palsy is the most common cause of childhood disability. The degree and type of motor impairment and functional capabilities vary depending on the etiology.
Loss of motor neurons in the cortex, brainstem and spinal cord is the hallmark of motor neuron disease/amyotrophic lateral sclerosis (MND/ALS), resulting in weakness of limbs, respiratory and bulbar muscles and eventually death from respiratory failure in the majority of patients. Around 20%-30% have bulbar symptoms at onset—this is less common in younger patients, but affects more than 40 ...
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Bulbar Palsy is a motor neuron lesion that affects the lower cranial nerves (9, 10, 11, 12). These nerves are responsible for the control of the movement of muscles ...
The field of neuronal autoantibody associated diseases of the central nervous system has expanded dramatically in the last few years. The range of ide…
This supplement is centred on the final version of the Report on the Definition and Classification of Cerebral Palsy from the group chaired by Murray Goldstein and Martin Bax. We have devoted a Supplement to it for several reasons, including the
The role of muscle biopsy in the investigation of neuromuscular disease remains firmly established but has evolved. Expertise in diagnostic myopathology remains relevant and supports clinical practice. Neuromuscular disease is rare; thus clinicopathological correlation, or better, collaboration is important. The process starts in the clinic with the identi cation of patients for whom muscle ...
Neurodegeneration with brain iron accumulation (NBIA) mostly has its disease onset in childhood, adolescence, or early adulthood and usually presents with predominant bulbar and axial dystonia along with signs such as spasticity, indicating an ...
Muscle ultrasound is a non-invasive, patient friendly imaging technique that can easily be used at the bedside for the screening of neuromuscular disorders (NMD), even in young children [1-4]. It can help reveal suggestive patterns of muscle involvement that can aid in the diagnosis of these disorders, and the degree of involvement can be tracked longitudinally [1]. The most practical way to ...
Molybdenum (Mo) cofactor deficiency (MoCD) is characterized by neonatal-onset myoclonic epileptic encephalopathy and dystonia with cerebral MRI changes similar to hypoxic-ischemic lesions. The initial presentation is unspecific, and diagnosis is often delayed owing...
The 4-point Heckmatt grading scale can easily be used to analyze muscle ultrasound images. The scale is used in an expanding set of muscles and neurom…
Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous group of movement disorders. Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonias, 2) dystonia-plus syndromes, and 3) paroxysmal dystonias/dyskinesias. We summarize recently discovered genes and loci, including ...
characterized by nonprogressive weakness, areflexia, hypotonia, severely reduced nerve conduction velocities, and hypomyelination. Mutations in contactin-associated protein 1 (CNTNAP1) were recently described as a cause of congenital hypomyelinating neuropathy. CNTNAP1-associated congenital hypo-myelinating neuropathy is characterized by severe hypotonia, multiple distal joint contractures ...
PDF | On Jan 1, 2005, N. Paneth and others published The classification of cerebral palsy | Find, read and cite all the research you need on ResearchGate
In addition to the most frequent TOR1A/DYT1 mutation (c.907_909delGAG), a growing number of TOR1A sequence variants are found in dystonia patients. Fo…
The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal movements and postures. There are many different clinical manifestations and underlying causes. Deep brain stimulation (DBS) provides an effect treatment, but outcomes can vary considerably among the different subtypes of dystonia. Several variables are thought to contribute to this ...
Muscle Diseases - A Guide to Differential Diagnosis, Investigation and Management - Free download as PDF File (.pdf), Text File (.txt) or read online for free.
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