Catalog

Laminopathy type Decaudain-Vigouroux

No MMS code

Link to WHO Definition

Laminopathy type Decaudain-Vigouroux – http://id.who.int/icd/entity/815630778

Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. So far, nine cases have been reported. Two of these patients also displayed cardiac conduction disturbances. The syndrome is caused by non-codon mutations at residue 482 of the <i>LMNA</i> gene. In contrast to other forms of laminopathy caused by mutations in the <i>LMNA</i> gene, Decaudain-Vigouroux laminopathy is not associated with clinically obvious lipoatrophy.