Facioscapulohumeral Dystrophy

Question 1

Examination Findings

Answer 1

Face:
Prominent ptosis
Difficulty closing eyes
Facial weakness - cannot puff cheeks out
Impaired speech

Neck:
Wasted steromastoids

Shoulder:
Winging of scapula (asymmetric)
Lower scapula, lower trapezii affected
Weakness of triceps and biceps
Deltoid hypertrophy
ABSENT biceps and triceps jerk

Trunk:
weakness of lower abdominal muscles

Question 2

What else to examine

Answer 2

lower limbs and complete neuro exam
assess for high frequency hearing loss
retinal telangiactasias
sleep apnea