Diseases

Myotonic Dystrophy 2

myotonic dystrophy 2

Basic Information

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Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

Description: SNOMEDCT_US_2016_09_01:A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).|SNOMEDCT_US_2016_09_01:A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).|NCI2016_02D:A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities.

Direct relations and traceable candidates grouped by relation type.