Neuromuscular disorders : NMD
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Neuromuscul. Disord. · Feb 2003
Comparative StudyDaytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders.
Sleep disordered breathing with or without nocturnal hypercapnic hypoventilation is a common complication of respiratory muscle weakness in childhood neuromuscular disorders. Nocturnal hypercapnic hypoventilation as a sign of respiratory muscle fatigue, portends a particularly poor prognosis. We aimed at identifying daytime predictors of sleep disordered breathing at its onset and sleep disordered breathing with nocturnal hypercapnic hypoventilation. ⋯ Sleep disordered breathing-onset was predicted by inspiratory vital capacity<60% (sens. 97%, spec. 87%). Sleep disordered breathing with nocturnal hypercapnic hypoventilation was predicted by inspiratory vital capacity<40% (sens. 96%, spec. 88%) and PaCO(2)>40 mmHg (sens. 92%, spec. 72%,). Sleep disordered breathing can reliably be predicted from simple daytime respiratory function tests, which, if applied systematically, will improve recognition of nocturnal respiratory failure.
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Neuromuscul. Disord. · Feb 2003
Case ReportsRecessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of mitochondrial DNA. We previously reported missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma in two nuclear families compatible with autosomal recessive progressive external ophthalmoplegia. ⋯ This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia. Sensory neuropathy is the initial feature in Belgian compound heterozygote autosomal recessive progressive external ophthalmoplegia patients, all carrying the POLG A467T mutation, which occurs at a frequency of 0.6% in the Belgian population.