Stridor as a Neonatal Presentation of Skeletal Muscle Sodium Channelopathy
نویسندگان
چکیده
منابع مشابه
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
BACKGROUND AND PURPOSE Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myo...
متن کاملParamyotonia congenita and skeletal sodium channelopathy.
Paramyotonia congenita, the major characteristics of which are cold-induced and exercise-induced myotonia, is an autosomal-dominant muscle disease which is classified into one of a group of muscle diseases, so-called muscle "sodium channelopathies" caused by missense mutations in the gene coding for the skeletal muscle sodium channel a-subunit (SCN4A) (1-4). Such muscle sodium channelopathies s...
متن کاملDivalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in t...
متن کاملA case of neonatal stridor.
A case is reported of a retropharyngeal abscess in a neonate who presented with increasing stridor since birth. Group B streptococcus was cultured from the abscess contents and the maternal birth tract.
متن کاملNeonatal Stridor
Neonatal stridor is an important condition, in many cases implying an impending disaster with a very compromised airway. It is a sign that has to be considered with the rest of the history and examination findings, and appropriate investigations should then be undertaken to confirm the source of the noise. Neonates with stridor should be managed in a multidisciplinary setting, by clinicians fam...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2011
ISSN: 0003-9942
DOI: 10.1001/archneurol.2010.347