[Aplasia of the arteria carotis interna in a male patient with congenital myotonia (author's transl)]. 1980

P Sakellariou, and M Schirmer, and H Seibert

In a 54 year old man who suffered from a myotonia congenita an intracranial aneurysm was suspected. Cerebral angiography revealed an aplasia of the left internal carotid artery. This very rare anomaly has not yet been described together with a myotonia congenita.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009224 Myotonia Congenita 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. Becker Generalized Myotonia,Myotonia, Generalized, Becker,Thomsen Disease,Batten Turner Congenital Myopathy,Batten-Turner Congenital Myopathy,Becker Disease,Congenital Myotonia,Generalized Myotonia of Becker,Generalized Myotonia of Thomsen,Myopathy, Congenital,Myotonia Congenita, Autosomal Dominant,Myotonia Congenita, Autosomal Recessive,Myotonia Levior,Myotonia, Generalized,Thomsen's Disease,Thomsens Disease,Disease, Becker,Disease, Thomsen,Disease, Thomsen's,Disease, Thomsens,Generalized Myotonia,Generalized Myotonia, Becker,Generalized Myotonias,Myotonia, Becker Generalized,Myotonias, Generalized,Thomsen Generalized Myotonia
D002343 Carotid Artery, Internal Branch of the common carotid artery which supplies the anterior part of the brain, the eye and its appendages, the forehead and nose. Arteries, Internal Carotid,Artery, Internal Carotid,Carotid Arteries, Internal,Internal Carotid Arteries,Internal Carotid Artery
D002533 Cerebral Angiography Radiography of the vascular system of the brain after injection of a contrast medium. Angiography, Cerebral,Angiographies, Cerebral,Cerebral Angiographies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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