Congenital Myasthenia Gravis

Clarke, Ronald R.; Velde, Robert L. Van de

doi:10.1001/archpedi.1971.02110040140017

Cited by 8 publications

(1 citation statement)

References 15 publications

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“…According to the literature, the diagnosis of congenital myasthenia is seldom made in the first year of life (Millichap andDodge 1960, Clarke andvan de Velde 1971). Negative family history and the usually mild symptoms delay the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Arthrogryposis Multiplex Congenita due to Congenital Myasthenia

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1980

Develop Med Child Neuro

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SUMMARY Decreased fetal movements may cause arthrogryposis multiplex congenita. Several distinct neuromuscular disorders may cause this syndrome, but congenital myasthenia has not previously been considered to be a possible cause. The authors report a case of congenital myasthenia gravis leading to arthrogryposis congenita. RÉSUMÉ Arthrogrypose congenitale multiple due a une myasthenic congenitale Une diminution des mouvements foetaux peut provoquer une arthrogrypose congenitale multiple. Plusieurs troubles neuromusculaires differents peuvent causer ce syndrome mais la myasthenic congenitale n'avait pas été envisagee comme cause possible. Les auteurs rapportent un cas de myasthenic congenitale a l'origine d'une arthrogrypose congenitale multiple. ZUSAMMENFASSUNG Angeborene Arrhrogryposis multiplex hervorgerufen durch eine angeborene Myasthenie Verminderte fetale Bewegungen konnen eine Arhrogryposis multiplex hervorrufen. Es gibt mehrere bestimmte neuromuskulare Erkrankungen, die als Ursache fur dieses Syndrom in Frage kommen; die angeborene Myasthenie ist bisher jedoch nicht als mogliche Ursache in Betracht gezogen worden. Die Autoren berichten uber einen Fall einer angeborenen Myasthenie, die zu einer Arthrogryposis multiplex gefiihrt hat. RESUMEN Artrogriposis mu'ltiple congéita debida a miastenia congknita La disminución de movimientos fetales puede causar artrogriposis mliltiple congknita. Diversas alteraciones neuromusculares diferentes pueden causar este sindrome, per0 la miastenia conghita no ha sido considerada como una causa posible. Los autores aportan un caso de miastenia congknita que dio lugar a una artrogriposis mliltiple congknita.

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Section: Discussionmentioning

confidence: 99%

Arthrogryposis Multiplex Congenita due to Congenital Myasthenia

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1980

Develop Med Child Neuro

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Congenital myasthenia: End‐plate acetylcholine receptors and electrophysiology in five cases

et al. 1981

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The nature of the defect in congenital myasthenia was investigated in biopsy specimens of intercostal muscle from 5 male patients whose symptoms presented between birth and 2 years of age. Miniature end-plate potentials were reduced in amplitude in all 5 patients. The number of acetylcholine receptors as determined by alpha-bungarotoxin binding was normal in case 1 and reduced in cases, 2, 4, and 5. The shape of the end-plates as shown by autoradiography and cholinesterase staining was normal in case 1 and elongated in cases 2, 4, and 5. In cases 3, alpha-bungarotoxin binding was slowly reversible, and there were some muscle fibers with multiple end-plate regions. The acetylcholine content of the muscle was normal in all 5 cases. None of the patients had serum antibody to human acetylcholine receptor as measured by immunoprecipitation or inhibition of alpha-bungarotoxin binding. We conclude that congenital myasthenia is a heterogeneous condition of nonimmune etiology in which both presynaptic and postsynaptic defects can be found.

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