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.
To read more or access our algorithms and calculators, please log in or register.
Specialty: Otolaryngology, Genetics
