Table 2.

Clinical Features Seen in CFTD Based on Frequency of Occurrence

Frequency of Occurrence
(% of Affected Individuals)
Clinical Features
Primary
(>50%-75%)
Hypotonia
Mild-to-severe generalized or proximal muscle weakness
Height and/or weight below the 3rd percentile
Decreased or absent deep tendon reflexes
Normal or mildly elevated CK levels
Normal or myopathic EMG
Normal intelligence
Common
(10%-50%)
Facial weakness/myopathic facies: long face, high-arched palate, and tented upper lip
Mild-to-severe respiratory issues
Mild-to-severe feeding difficulties
Ophthalmoplegia
Joint contractures or arthrogryposis multiplex congenita
Congenital hip dislocation
Spinal abnormalities, including scoliosis, kyphoscoliosis, and lordosis
Joint laxity
Rarely reported
(<10%)
Cardiac involvement
Cognitive impairment
Cryptorchidism

From: Congenital Fiber-Type Disproportion

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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