Congenital myopathy-16 (CMYO16) is an autosomal dominant muscle disorder characterized by onset of hypotonia and tremor in infancy. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. Some may develop secondary mild contractures or spinal deformities. Cognition is normal and the disease course tends to stabilize after adolescence (summary by Stavusis et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]
- MedGen UID:
- 1684886
- •Concept ID:
- C5231401
- •
- Disease or Syndrome