Nondystrophic myotonic disorders: Cases from India
نویسندگان
چکیده
منابع مشابه
Myotonic disorders.
Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes encoding chloride (ClC-1) or sodium (SCN4A) channels expressed exclusively in skeletal muscle cause nondystrophic myotonias. Genetic defects i...
متن کاملElectrodiagnosis of myotonic disorders.
Clinical and electrical myotonia is caused by a small group of neuromuscular disorders. This article reviews myotonia and its differential diagnosis. The use of electrodiagnostic testing to evaluate the primary myotonic disorders (myotonic dystrophy and the nondystrophic myotonias) is also discussed.
متن کاملmyotonic disorders: a review article
the myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. the presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (mc), to severe disability with muscle weakness, cardiac conduction def...
متن کاملDifferential diagnosis of myotonic disorders.
The presence of myotonia and paramyotonia on clinical examination and of myotonic discharges during electrodiagnostic (EDX) studies are important for the diagnosis of certain neuromuscular conditions. The increased muscle activity of myotonia produces muscle stiffness that improves with repeated activity. Paramyotonia produces a similar symptom, but the stiffness paradoxically increases with ac...
متن کاملMyotonic disorders: A review article
The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (MC), to severe disability with muscle weakness, cardiac conduction def...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2021
ISSN: 0972-2327
DOI: 10.4103/aian.aian_536_20