Respiratory abnormalities can be noticed in various neuromuscular disorders, and often encountered as the direct cause of death in such patients. Numbers of recent studies in mammalians and humans have revealed the localization of the respiratory center in the ponto-medullary reticular formation in the brainstem. Respiratory failures are produced by the diseases of either central or peripheral organs, in other words, neurogenic or myogenic mechanism.
Neurogenic respiratory failures can be accompanied mainly by intracranial and upper cervical diseased states including cerebrovascular disturbances, tumors, infections, intoxications, etc. Neurodegenerating disorders are also included, such as amyotrophic lateral sclerosis (ALS), Parkison's disease, spinocerebellar degenerations (SCD), and multiple system atrophy (MSA), in which a selective abductor vocal cord paralysis has been suspected as the cause of respiratory failure.
Myogenic hypoventilations are well known in the advanced stage of progressive muscular dystrophies, myotonic dystophy, and some rare congenital myopathies.
Recently, sleep apnea syndrome (SAS) has been paid particular attention in relation with unexpected sudden death. In neuromuscular disorders SAS is frequently observed, especially in MSA and myotonic dystrophy. Some functional and/or organic disturbances of the central rhythmogenesis controlling both sleep and respiration are suspected, which was in part disclosed by clinicopathological analyses in several autopsy cases with SAS in our previous studies.
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