Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy

Abstract

The authors present a child affected with diaphragmatic paralysis in the early neonatal period. Although no electroneuromyographic abnormalities were reported, the patient developed dramatic motor and respiratory impairment with impossibility to wean from mechanical ventilation. Repeated electroneuromyographic study at age 4 months revealed severe neurogenic changes and sensory nerve abnormalities with more preserved nerve conduction velocities. Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy rather than a primary anterior horn disease (IGHMBP2-related neuropathy). A review of the series of mutated patients in the French National Database gives new insights of the incidence of this disease in France.

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

“…4,9 We describe an infant who presented with distal weakness and primary respiratory failure associated with diaphragm paralysis but lacking a Nelson reports no disclosures relevant to the manuscript. W. Zeng is a salaried employee from Ambry Genetics, where exome sequencing is among the for-profit items on the test menu.…”

“…4,9 We describe an infant who presented with distal weakness and primary respiratory failure associated with diaphragm paralysis but lacking a…”

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

“…Variants were then filtered further based on family history and possible inheritance models. Data are annotated with the ambry variant analyzer tool (AVA), including nucleotide and amino acid conservation, biochemical nature of amino acid substitutions, population frequency (ESP and 1,000 genomes), and predicted functional impact (including PolyPhen (Gitiaux et al 2013) and SIFT (Grohmann et al 2004) in silico prediction tools). Each candidate mutation was assessed by a molecular geneticist to identify the most likely causative mutation(s).…”

New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2

“…Авторы подчеркивают, что в отличие от фенотипа при SMARD1, у 4 пациентов не выявлены нарушения дыхательной функции ни в дебюте, ни в возрасте уста-новления диагноза (14, 18, 22 и 37 лет соответственно); только у 1 пациента был отмечен дыхательный ди-стресс. В 2013 г. представлено детальное описание ребенка с прогрессирующей аксональной нейропатией с мутациями в гене IGHMBP2 [27].…”

“…Сегодня в литературе описаны 22 пациента из 15 се мей с НМСН 2S типа с мутациями в гене IGHMBP2 [15,[25][26][27] без учета больных с пересмотренным диаг-нозом [28].…”