A patient with a congenital myopathy may show a number of characteristic facial features ("myopathic facies") related to weakness and atrophy of facial muscles.


Clinical features:

(1) elongated face

(2) no or little facial expression

(3) bilateral facial muscle paralysis (facial diplegia)

(4) mouth open and tent-shaped

(5) high arched palate

(6) retrognathia and/or lock jaw

(7) nasal voice or dysarthria

(8) absence of the palatal reflex

(9) small and furrowed tongue

(10) difficulty in lifting the head up when in a supine position associated with weakness of the neck flexors


The extraocular muscles are often spared.


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