Preferred Label : Congenital muscular dystrophy type 1D large gene mutation;
ICD-11 definition : Congenital muscular dystrophy characterized by abnormality in the glycosylation of
the alpha-dystroglycan that correlates with an increasingly severe pattern of tissue
effects, extending from an adult-onset limb-girdle muscular dystrophy with normal
intelligence (LGMD type 2I) to severe congenital brain and eye malformations (Walker–Warburg
syndrome). Congenital muscular dystrophy type 1D due to mutations in LARGE is the
rarest of the alpha-dystroglycanopathies identified to date. Affected children have
typical neurological and muscle abnormalities associated with the alpha-dystroglycanopathies,
but with very different severities.;
ICD-11 synonym : MDC1D - [congenital muscular dystrophy 1D]; congenital muscular dystrophy 1D;
ICD-11 acronym : MDC1D;
Origin ID : 987337152;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Congenital muscular dystrophy characterized by abnormality in the glycosylation of
the alpha-dystroglycan that correlates with an increasingly severe pattern of tissue
effects, extending from an adult-onset limb-girdle muscular dystrophy with normal
intelligence (LGMD type 2I) to severe congenital brain and eye malformations (Walker–Warburg
syndrome). Congenital muscular dystrophy type 1D due to mutations in LARGE is the
rarest of the alpha-dystroglycanopathies identified to date. Affected children have
typical neurological and muscle abnormalities associated with the alpha-dystroglycanopathies,
but with very different severities.
