Conditions / Musculoskeletal
centronuclear myopathy X-linked
info · Musculoskeletal · ICD-10: G71.220
A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
Signs and symptoms
- Neonatal hypotonia
- Low 1-minute APGAR score
- Neonatal respiratory distress
- Respiratory failure requiring assisted ventilation
- Birth length greater than 97th percentile
- Areflexia
- Decreased fetal movement
- Cryptorchidism
- Facial palsy
- Flexion contracture
Also known as: CNMX; MTM1; X-linked myotubular myopathy; XLCNM; XLMTM