Typically presents in middle age with weakness of hands, legs and neck.
- Mental deficiency
- Frontal balding
- Smooth expressionless forehead
- Lateral smile or sneer
- Classic Facial Appearance: Muscle wasting and weakness of the face leads to a long haggard appearance.
- Cardiomyopathy (Heart block can occur)
- Autosomal Dominant! Think "Domino!"
- Muscle Wasting: Facial muscles, Sternocleidomastoid, Shoulder girdle and quads.
- Myotonia occurs - inability to relax muscles so patients cannot let go following a hand shake!
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