congenital muscular dystrophy without intellectual disability
A congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
MONDO:0019950
congenital muscular dystrophy
is_a
CMD without intellectual disability
exact
CMD-no MR
exact
congenital muscular dystrophy-dystroglycanopathy without intellectual disability
exact