Saturday, December 10, 2016

Myotonic dystrophy notes and mnemonic


Here are my notes + a mnemonic

Congenital myotonic dystrophy
- Autosomal Dominant
- CTG trinucleotide repeat
- Genetic anticipation seen

- Hypotonia "floppy infant"
- Hollowing of temporal bones
- Tenting of upper lip
- Respiratory muscle weakness
- Arthrogryposis
- Posterior subcapsular cataracts (Subcapsular spokes in stellate conformation) 

Juvenile myotonic dystrophy

- Facial and upper body weakness (Hatchet face due to temporalis, masseter, facial muscle atrophy; frontal baldness)
- Inability to relax muscle (Sustained grip)

- Cardiomyopathy
- Heart block
- Congestive heart failure

- Intellectual impairment
- Gonadal atrophy
- Posterior subcapsular cataracts

- Thenar, hypothenar muscle atrophy (Myotonia evident on percussion)
- Tongue depression
- Dementia

That's all!
Be kind.

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