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Myotonic Dystrophy (Symptoms (muscle wasting and weakness (stiffness and…
Myotonic Dystrophy
Symptoms
muscle wasting and weakness
stiffness and tightness of muscles
can't release grip in handshake
can't release from doorknob
cataracts
cardiac conduction defects
inherited type of muscular dystrophy
muscles wasting and weaknesses
lower legs
hands
neck
face
develop in 20-30s
disability is severe 15-20 years after symptoms appear
Type 1: severe, can be seen at birth
congential myotonic dystrophy
Type 2: milder than Type 1
1 in 8,000 worldwide
inherited in families in autosomal dominant pattern
Diagnosis
physical exam
laboratory tests
EMG
genetic tests
blood sample
alterations in 2 genes
CNBP
DMPK
Treatment
no cure
ankle supports
leg braces
medications