Myotonic Dystrophy

Question 1

Signs

Answer 1

Shake hands-slow releasing grip
Myopathic facies
Frontotemporal balding
Bilateral ptosis
Cataracts
Difficulty opening eyes after firm closure
Facial muscle/ temporalis/ masseter/SCM weakness
Dysarthria from dystopia of tongue
Distal muscle wasting and weakness- impairment of fine movements, foot drop
Reduced reflexes
Percussion myotonia over thenar eminence, slow releasing grip
High stepping gait

Question 2

What else would you like to do

Answer 2

Fundoscopy: cataracts, diabetic changes
Cardiovascular exam: cardiomyopathy/heart failure/ valvular disease
Diabetic exam
Goitre
Hypogonadism
Ask for urine, ECG