[2] Other symptoms include congenital nonprogressive hypotonia and weakness, kyphoscoliosis, high-arched palate, dislocated hips, short stature, and feet deformities.

[7] Some CFTD children appear to "grow out" of their hypotonia and weakness during childhood, and this can often be accompanied by a normalization of type 1 fiber size.

[5] To be diagnosed with CFTD, the main diagnostic abnormality must be a disproportion in fiber sizes, and the diagnosis is only appropriate after every other type of congenital myopathy has been ruled out.

Before CFTD is diagnosed, a number of other neuromuscular (and systemic) disorders must be taken into account and ruled out as possible causes of mild cases of fiber size disproportion (FSD).

[8] The best threshold for the degree of fiber size disproportion required to diagnose CFTD is still being debated, but it is generally agreed that it should be greater than 12%.

[5] To ensure proper nutrition, some patients with severe dysphagia and generalized weakness need to be fed through a gastrostomy tube.