Conditions / Genetic
congenital myopathy 18
info · Genetic
A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
Signs and symptoms
- Hypotonia
- Motor delay
- High palate
- Axial muscle weakness
- Increased variability in muscle fiber diameter
- Feeding difficulties
- Scoliosis
- Increased endomysial connective tissue
- Ophthalmoplegia
- Fatty replacement of skeletal muscle