Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms
نویسندگان
چکیده
منابع مشابه
Sodium channelopathies in skeletal muscle and brain
Ion channel disorders are rare inherited diseases providing interesting models to study dysfunction of excitability in vivo and in vitro. The first socalled ‘channelopathies’ identified were skeletal muscle diseases, the myotonias and hyperkalemic periodic paralysis (HyperPP), which are sodium or chloride channel disorders. Within the last 5–10 years, complementary genetic and electrophysiologi...
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1. The main aim of the present review is to raise awareness of the molecular complexity of single skeletal muscle fibres from "normal" and "transforming" muscles, in recognition of the many types of hybrids that have been observed in vertebrate skeletal muscle. The data used to illustrate various points made in the review were taken from studies on mammalian (mostly rat) and amphibian muscles. ...
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BACKGROUND AND PURPOSE Fatigue and pain have been previously shown to be important determinants for decreasing quality of life (QoL) in one report in patients with non-dystrophic myotonia. The aims of our study were to assess QoL in skeletal muscle channelopathies (SMC) using INQoL (individualized QoL) and SF-36 questionnaires. METHODS We administered INQoL and SF-36 to 66 Italian patients wi...
متن کاملNovel insights into the pathomechanisms of skeletal muscle channelopathies.
The nondystrophic myotonias and primary periodic paralyses are an important group of genetic muscle diseases characterized by dysfunction of ion channels that regulate membrane excitability. Clinical manifestations vary and include myotonia, hyperkalemic and hypokalemic periodic paralysis, progressive myopathy, and cardiac arrhythmias. The severity of myotonia ranges from severe neonatal presen...
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Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Na(v)1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe ca...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2017
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2017.05.081