Myotonic Dystrophy

Typically presents in middle age with weakness of hands, legs and neck.

 - Mental deficiency

 - Frontal balding

 - Ptosis

 - Cataracts

 - 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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