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Myotonic Dystrophy
dystrophia myotnica
- autosomal dominant
- shows anticipation
- increased severity with each generation
- triplet repeat expansion
Clinical Features
- usually becomes evident between 20-50 years
-
- progressive distal weakness
- ptosis
- thinning of face / sternomastoids
- myotonia
- syndrome
- cataracts
- frontal baldness
- mild intellectual impairment
- cardiomyopathy and conduction defects
- small pituitary fossa and hypogonadism
- glucose intolerance
- low serum IgG
Examination
- may find it hard to release handshake
- Observe
- ptosis
- myopathic facies
- snarl
- poor smile
- probably unable to whistle
- looks sad or simple
- drooping mouth
- temporal wasting
- frontal balding
- cataracts
- Myotonia
- slow relaxation of muscles
- difficulty releasing grip
- Power
- weak, especially forearms
- Reflexes
- Higher Mental Function
- Endocrine
Investigations
- ECG
- cardiac conduction defects
Treatment
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