Conditions / Genetic
congenital myopathy 22B
info · Genetic
A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.
Signs and symptoms
- Polyhydramnios
- Decreased fetal movement
- Hypoplasia of the musculature
- Talipes
- Hypotonia
- Pulmonary hypoplasia
- Generalized amyotrophy
- Nonimmune hydrops fetalis
- Limb muscle weakness
- Motor delay