Number of the records: 1  

myotónia kongenitálna

  1. Record numberd009224
    Date06.06.2025
    TypeM - MESH
    Topical termmyotónia kongenitálna
    Other termEnglish (Pseudonym) Becker Generalized Myotonia
    English (Pseudonym) Myotonia, Generalized, Becker
    English (Pseudonym) Thomsen Disease
    Slovak (Pseudonym) myotonia congenita hereditaria Thomsen
    Slovak (Pseudonym) Beckerova generalizovaná myotónia
    Slovak (Pseudonym) Thomsenova choroba
    UDCC05.651.662.500C10.574.500.545C10.668.491.606.500C16.320.400.540
    NoteInherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.
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Number of the records: 1  

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