Conditions / Genetic
congenital myopathy 26
info · Genetic
A congenital myopathy characterized by limb muscle weakness and mild motor delay apparent from infancy that has_material_basis_in heterozygous mutation in the TUBA4A gene on chromosome 2q35.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Scapular winging
- Fatty replacement of skeletal muscle
- Motor delay
- Proximal lower limb muscle weakness
- Rimmed vacuoles
- Waddling gait
- High palate
- Ophthalmoparesis
- Proximal upper limb muscle weakness