Conditions / Genetic
centronuclear myopathy 5
info · Genetic
An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35.
Signs and symptoms
- Centrally nucleated skeletal muscle fibers
- Motor delay
- High palate
- Muscle weakness
- Generalized hypotonia
- Weakness of facial musculature
- Retrognathia
- Dilated cardiomyopathy
- Respiratory insufficiency
- Axial muscle weakness
Also known as: CNM5