Pediatric myasthenia gravis and velopharyngeal incompetence

Rieder, Anthony Allan; Conley, Stephen F.; Rowe, Laura

doi:10.1016/j.ijporl.2004.01.006

Cited by 14 publications

(8 citation statements)

References 21 publications

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“…[2][3][4][5][6] In one report 6 maternal antibodies selectively inhibited the fetal AChR subunit. [2][3][4][5][6] In one report 6 maternal antibodies selectively inhibited the fetal AChR subunit.…”

Section: Discussionmentioning

confidence: 99%

Fetal Acetylcholine Receptor Inactivation Syndrome and Maternal Myasthenia Gravis

Oskoui¹,

Jacobson²,

Chung³

et al. 2008

Neurology

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CIRCADIAN RHYTHM DISORDER IN MORVAN SYNDROMEAntibodies to voltage-gated potassium channels (VGKC-Abs) have been recognized in neuromyotonia, limbic encephalitis (LE), and Morvan syndrome (MoS), 1,2 a rare condition with insomnia, peripheral, and central and autonomic nervous system involvement. Clinical progression in MoS is variable, but potentially fatal. We describe a patient with VGKC-Abs-positive MoS who showed prominent compulsive behaviors, basal ganglia hypermetabolism, increased catecholamine and serotonin secretion, epileptic seizures, and cardiac and endocrine circadian rhythm suppression. A striking response to immunotherapy paralleled a marked reduction in VGKC-Abs over 15 months. Case report.A 64-year-old man with idiopathic pulmonary fibrosis and polyarthrosis developed cramps, lower extremity pain, and sensory loss. Three years later, his sleep was disturbed by chewing, manual stereotypies, and sleep-talking. After an episode of tonic-clonic seizures, EEG revealed a temporal epileptic focus. He developed paroxysmal confusional episodes, with gesturing and irregular breathing, that were unresponsive to multiple anticonvulsants. He became irritable and hypomanic with overwhelming compulsive shopping and stealing. Urinary frequency, anosmia, impotence, and increased appetite appeared.Examination showed bilateral postural tremor, multifocal myoclonus, lower extremity fasciculations, hypoesthesia, hyporeflexia, and mild proximal muscle atrophy. Laboratory investigations, including autoimmune and thyroid profile, were normal except for increased leukocytes, a raised erythrocyte sedimentation rate and creatine phosphokinase, mild hyponatremia, and antinuclear antibodies 1:160. CSF was negative for infections and 14.3.3 protein, but showed slightly increased proteins (66 mg/dL, nv Ͻ50) and matched serum/ CSF IgG oligoclonal bands. Onconeural antibodies and the search for occult neoplasia proved negative. Brain MRI showed only nonspecific periventricular white matter lesions (figure, A), but brain 18 F-FDG-PET demonstrated markedly increased activity in the basal ganglia (figure, B). Repeated EEG showed only transient diffuse slowing.On neuropsychological testing there was confusion, delusions, disorientation, confabulations, and reduplicative paramnesias with impairment in executive functions and language (table e-1 on the Neurology ® Web site at www.neurology.org). EMG revealed peripheral neuropathy and peripheral nerve hyperexcitability, and muscle biopsy showed denervation, myopathic changes, and swollen sarcoplasmic reticulum on electron microscopy. Autonomic study, performed for persistent tachycardia and labile hypertension, demonstrated absent/ inverted circadian rhythm of blood pressure, heart rate (figure, C), and temperature over 24 hours. Melatonin and prolactin circadian rhythms were also suppressed, whereas 24-hour urinary catecholamine and metabolites were increased (adrenaline 221 nmol, nv 5-110; noradrenaline 810 nmol, nv 40 -600), and not inhibited by clonidine, as were urinary serotonin...

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Section: Discussionmentioning

confidence: 99%

Fetal Acetylcholine Receptor Inactivation Syndrome and Maternal Myasthenia Gravis

Oskoui¹,

Jacobson²,

Chung³

et al. 2008

Neurology

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“…Marked dysarthria with or without velopharyngeal incompetence (VPI) was one of the most prominent persistent features observed in our series and also by others. 5 , 13 It is interesting that TNMG has been reported as an identifiable factor in the medical history in a large cohort of patients with VPI, 12 indicating a possible association. Pyloric stenosis was a feature in one of our patients and has previously been reported in an isolated case with TNMG 14 ; it is uncertain whether this association reflects a shared disease mechanism and/or the effects of anticholinergic treatment.…”

Section: Discussionmentioning

confidence: 99%

Fetal acetylcholine receptor inactivation syndrome

Hacohen

Jacobson

Byrne

et al. 2015

Neurol Neuroimmunol Neuroinflammation

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Background:Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to mothers with myasthenia gravis (MG). Symptoms usually resolve completely within the first few months of life, but persistent myopathic features have been reported in a few isolated cases.Methods:Here we report 8 patients from 4 families born to mothers with clinically manifest MG or mothers who were asymptomatic but had elevated acetylcholine receptor (AChR) antibody levels.Results:Clinical features in affected infants ranged from a mild predominantly facial and bulbar myopathy to arthrogryposis multiplex congenita. Additional clinical findings included hearing impairment, pyloric stenosis, and mild CNS involvement. In all cases, antibodies against the AChR were markedly elevated, although not always specific for the fetal AChR γ subunit. There was a correlation between maternal symptoms; the timing, intensity, and frequency of maternal treatment; and neonatal outcome.Conclusions:These findings suggest that persistent myopathic features following TNMG may be more common than currently recognized. Fetal AChR inactivation syndrome should be considered in the differential diagnosis of infants presenting with unexplained myopathic features, in particular marked dysarthria and velopharyngeal incompetence. Correct diagnosis requires a high degree of suspicion if the mother is asymptomatic but is crucial considering the high recurrence risk for future pregnancies and the potentially treatable nature of this condition. Infants with a history of TNMG should be followed up for subtle myopathic signs and associated complications.

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“…(Konstantopoulos et al, 2017;Nemr, Simões-Zenari, Ferreira, Fernandes y Mansur, 2013;Xu, Han, Hou y Hu, 2009) y dos para las dificultades de resonancia (Rieder, Conley y Rowe, 2004;Vrticka y Schweizer, 1996). En cuanto al tratamiento, solo dos artículos reportan estrategias de intervención (Nemr et al, 2013;Rieder et al, 2004). A continuación y en la tabla 4 se presenta la información hallada en los artículos.…”

Section: Análisis Bibliométrico Específicounclassified

“…Evaluación de la resonancia. De acuerdo con lo encontrado, la evaluación de la resonancia en personas con MG se ha realizado por medio de la Nasometría (Vrticka y Schweizer, 1996) y a través de instrumentos de valoración perceptual como la versión tres de la escala Cleft Palate Scale CPS-III (Rieder et al, 2004) diseñada para valorar la resonancia en niños con paladar hendido. Tratamiento de las alteraciones de la fonación.…”

Section: Análisis Bibliométrico Específicounclassified

“…Tratamiento de las alteraciones de la resonancia. Rieder et al (2004), en un estudio retrospectivo de 30 años con 538 niños, mostraron que cuatro de ellos con MG e hipernasalidad se beneficiaron del uso de prótesis de elevación velopalatina combinada con terapia de habla. Las técnicas, el tipo de prótesis usadas ni la duración de las intervenciones fueron descritas por estos autores.…”

Section: Herramientas De Evaluación Del Habla Usadas En Personas Con Mgunclassified

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Evaluación e intervención del habla en Miastenia Gravis

Mendoza

Castillo-Triana

2018

Rev. Colomb. Rehabil.

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Las alteraciones del habla en personas con Miastenia Gravis (MG) son comunes durante el curso de la enfermedad y en ocasiones son el signo de inicio de esta, especialmente en personas con MG bulbar. Asociadas a la MG, se han reportado alteraciones en la fonación, articulación y resonancia del habla que corresponden con los signos de una disartria flácida. Objetivo: Este estudio se propuso revisar cuál es la producción de literatura científica acerca de los métodos, herramientas y técnicas de evaluación y tratamiento de los desórdenes del habla en MG. Método: Se realizó una búsqueda de artículos en las bases de datos PubMed, Medline, Embase, Scielo y Biblioteca Virtual en Salud (BVS), con diferentes combinaciones de descriptores MeSH, DeCS y otros. Un total de nueve artículos fueron analizados a través de parámetros bibliométricos generales y específicos. Resultados: De 1239 artículos recuperados solamente 9 cumplieron con los criterios de selección. La mayoría de ellos fueron publicados en Estados Unidos y correspondieron a estudios de caso y controles. Todos los estudios reportaron técnicas de evaluación del habla y solo 2 de ellos mencionaron técnicas de tratamiento. Discusión: La información contenida en los artículos no permitió establecer un consenso sobre las herramientas más idóneas para el diagnóstico de desórdenes del habla secundarios a MG, ni tampoco dejó extraer datos acerca de métodos y técnicas de tratamiento usados. Existe una necesidad apremiante de desarrollar estudios que soporten las intervenciones del habla (evaluación y tratamiento) y así proveer a los clínicos información válida y confiable para trabajar con personas que presentan MG

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Pediatric myasthenia gravis and velopharyngeal incompetence

Cited by 14 publications

References 21 publications

Fetal Acetylcholine Receptor Inactivation Syndrome and Maternal Myasthenia Gravis

Fetal Acetylcholine Receptor Inactivation Syndrome and Maternal Myasthenia Gravis

Fetal acetylcholine receptor inactivation syndrome

Evaluación e intervención del habla en Miastenia Gravis

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