Conditions / Genetic
congenital myopathy 6
info · Genetic
A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene enco
A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.
Signs and symptoms
- Myopathic facies
- Dysphagia
- Scoliosis
- Myopathy
- Generalized hypotonia
- Ptosis
- Ophthalmoplegia
- Waddling gait
- High palate
- Type 1 muscle fiber predominance
Also known as: congenital myopathy 6 with ophthalmoplegia; inclusion body myopathy 3; proximal myopathy and ophthalmoplegia