Catalog

Congenital muscular dystrophy type 1B

No MMS code

Link to WHO Definition

Congenital muscular dystrophy type 1B – http://id.who.int/icd/entity/222998722

Congenital Muscular Dystrophy Type 1B is a congenital muscular disorder characterised by muscle hypotonia, weakness of proximal muscles, hypertrophy of some muscles, rigidity of the spine, and muscle contractures especially of the Achilles tendon. This form has been linked to an as yet unidentified gene on chromosome 1 and is classified as a subtype of the dystroglycanopathies.