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