Myopatisk EDS - mEDS

Myopatisk Ehlers-Danlos' syndrom (EDS) er en svært sjelden undertype av EDS. På engelsk brukes navnet myopathic EDS (forkortelse mEDS).

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Major criteria are:

  1. Congenital muscle hypotonia, and/or muscle atrophy, that improves with age;

  2. Proximal joint contractures (knee, hip and elbow); and

  3. 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.

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