CFTD becomes apparent at birth or in early childhood, and the initial signs are floppiness (hypotonia) and motor delay, such as delay in crawling and walking. External ophthalmoplegia (weakness of the muscles around the eye) may occur in some people and can lead to problems with eye movement and sometimes droopiness of the eyelids (ptosis). Generalised muscle weakness is seen and sometimes children are born with dislocated hip(s). Breathing problems can occur and these vary in severity, but can be life-threatening in some cases. Other characteristic features include curvature of the spine (scoliosis), tightening of joints (contractures), deformities of the feet and a high arched palate. Problems with the heart are only rarely seen.
Progression of CFTD is highly variable, depending on the genetic background. Some people with CFTD show a progression, in others the condition remains static or may even show improvement over time.