Conditions / Genetic
muscular dystrophy-dystroglycanopathy type B1
info · Genetic
A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Inability to walk
- Hypoplasia of the brainstem
- Severe intellectual disability
- Cerebellar vermis hypoplasia
- Microcephaly
- Cerebellar hypoplasia
- Muscular dystrophy
- Calf muscle hypertrophy
- Macroglossia
Also known as: CMD due to dystroglycanopathy; Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1