Počet záznamov: 1
myotónia kongenitálna
Č. záznamu d009224 Dátum 06.06.2025 Typ M - MESH Tematický termín myotónia kongenitálna Iný termín Angličtina (Pseudonym) Becker Generalized Myotonia
Angličtina (Pseudonym) Myotonia, Generalized, Becker
Angličtina (Pseudonym) Thomsen Disease
Slovenčina (Pseudonym) myotonia congenita hereditaria Thomsen
Slovenčina (Pseudonym) Beckerova generalizovaná myotónia
Slovenčina (Pseudonym) Thomsenova choroba
MDT C05.651.662.500C10.574.500.545C10.668.491.606.500C16.320.400.540 Poznámka Inherited 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. 
predmetové heslo
Počet záznamov: 1