Conditions / Genetic
congenital myopathy 25
info · Genetic
A congenital myopathy characterized by prominent facial, ocular, and bulbar features that has_material_basis_in homozygous mutation in the JPH1 gene on chromosome 8q21.
Signs and symptoms
- Hypotonia
- Gastroesophageal reflux
- Gowers sign
- Lumbar hyperlordosis
- Delayed ability to sit
- Bilateral ptosis
- Constipation
- Ophthalmoparesis
- Generalized amyotrophy
- Exercise intolerance