Preferred Label : Congenital muscular dystrophy type 1B;
ICD-11 definition : Congenital Muscular Dystrophy Type 1B is a congenital muscular disorder characterized
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.;
ICD-11 synonym : MDC1B;
ICD-11 acronym : MDC1B;
Origin ID : 222998722;
Currated CISMeF NLP mapping
Congenital Muscular Dystrophy Type 1B is a congenital muscular disorder characterized
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.
