Catalog

Antenatal multi-minicore disease with arthrogryposis multiplex congenital

No MMS code

Link to WHO Definition

Antenatal multi-minicore disease with arthrogryposis multiplex congenital – http://id.who.int/icd/entity/2136141208

Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles.