Biomaterial Database

Myotonia congenita (Thomsen's disease). 1945

A CHAND, and P N CHHUTTANI

UI	MeSH Term	Description	Entries
D007896	Leishmaniasis	A disease caused by any of a number of species of protozoa in the genus LEISHMANIA. There are four major clinical types of this infection: cutaneous (Old and New World) (LEISHMANIASIS, CUTANEOUS), diffuse cutaneous (LEISHMANIASIS, DIFFUSE CUTANEOUS), mucocutaneous (LEISHMANIASIS, MUCOCUTANEOUS), and visceral (LEISHMANIASIS, VISCERAL).	Leishmania Infection,Infection, Leishmania,Infections, Leishmania,Leishmania Infections,Leishmaniases
D009222	Myotonia	Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS.	Myotonic Phenomenon,Percussion Myotonia,Myotonia, Percussion,Myotonias,Myotonias, Percussion,Myotonic Phenomenons,Percussion Myotonias,Phenomenon, Myotonic,Phenomenons, Myotonic
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man