Fig. 4: OPDM individuals present with ptosis, and frequently progress to develop weakness of the facial muscles and muscle atrophy and weakness of the distal lower and upper limbs.

Clinical images of AUS2-IV:2 at 67 years of age (A), AUS1-II:3 (B), AUS3-II:1 at 71 years of age (C), AUS1-IV:3 at 77 years of age (D) and UK2-III:1 at the age of 52 years of age (J) showing ptosis and marked facial weakness. Muscle atrophy of the distal limbs is seen in the hands (E) of AUS2-IV:2 (67 years old) and individual AUS1-II:3 developed contractures (F). Wasting of the muscles of the lower legs is also seen in AUS3-II:1 (71 years old) (G) and UK1-II:1 at 57 years of age (K). Mild ptosis is seen in younger affected individuals: AUS1-V:3 at 50 years of age (H) and AUS1-V:4 at 48 years of age (I). Lower limbs muscle MRI for case UK2-III-2. L Thighs are mostly preserved with some mild fatty infiltration predominantly affecting the biceps femoris (*). M Calf muscles are more severely affected. There is a marked predominant involvement of the posterior compartment including soleus and gastrocnemius muscles.