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- W2038192261 abstract "The present study is a retrospective case note review of children with a diagnosis of Nemaline Myopathy attending a tertiary neuromuscular centre. Nineteen patients with typical congenital Nemaline Myopathy are described in relation to their feeding and speech difficulties. Clinical data is presented on: genetic aetiology, severity and disease progression, survival, frequency of follow up, ambulation, faltering growth, frequency of respiratory infections, sleep hypoventilation, non-invasive ventilation (NIV), feeding difficulties, videofluoroscopy results, need for tube feeding (both naso-gastric tube and gastrostomy), gastro-oesophageal reflux and fundoplication. The clinical characteristics of the group include maintained ambulation, faltering growth, feeding difficulties, recurrent respiratory infections and respiratory failure. The majority of children required either gastrostomy or NIV or a combination of both. Faltering growth and gastrostomy preceded nocturnal hypoventilation and NIV in most cases...." @default.
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- W2038192261 date "2006-01-01" @default.
- W2038192261 modified "2023-09-27" @default.
- W2038192261 title "Feeding and speech difficulties in typical congenital Nemaline Myopathy" @default.
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- W2038192261 doi "https://doi.org/10.1080/14417040500459593" @default.
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