Myopatisk EDS - mEDS
Myopatisk Ehlers-Danlos' syndrom (EDS) er en svært sjelden undertype av EDS. På engelsk brukes navnet myopathic EDS (forkortelse mEDS).
Beskrivelse på engelsk
Major criteria are:
Congenital muscle hypotonia, and/or muscle atrophy, that improves with age;
Proximal joint contractures (knee, hip and elbow); and
Hypermobility of distal joints.
There are four minor criteria. The minimal criteria required to suggest a diagnosis of mEDS are the first major criterion plus either: one other major criterion, or three minor criteria.
A final diagnosis requires molecular testing; mEDS is caused by heterozygous or biallelic mutations in COL12A1, and the clinical phenotype highly overlaps with collagen type VI-related myopathies. It is currently unknown whether other, yet to be discovered genes, are associated with this phenotype. In case no COL12A1 mutations are identified alternative diagnoses, especially collagen VI-related Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy, should be considered. Myopathic EDS is inherited in either the autosomal dominant or the autosomal recessive pattern.