Disease association ontology term - MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K
Term summary
- ID
- MONDO:0012248
- Name
- autosomal recessive limb-girdle muscular dystrophy type 2K
- Ontology or CV name
- Disease association
- Definition
- Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
