Conditions / Genetic
congenital myopathy 4A
info · Genetic
A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
Signs and symptoms
- Congenital hip dislocation
- Facial palsy
- Failure to thrive
- Reduced forced vital capacity
- Lumbar hyperlordosis
- High palate
- Proximal muscle weakness
- Dilated cardiomyopathy
- Narrow face
- Dysphagia
Also known as: CFTD; autosomal dominant congenital myopathy 4A; congenital fiber-type disproportion