Autosomal dominant disease characterised by trinucleotide repeat of CTG. Also known as Dystrophica Myotoncia the disease is causes an increase in muscle tone (Myotonia) with associated degeneration and shrinkage of muscle fibres (Dystrophy).
Myotonia is defines as continued contraction of the muscle after voluntary contraction ceases.
|Remember Myotonic dystrophy type 2 has all the same features of the classic myotonic dystrophy with the difference being in proximal muscle wasting/weakness rather than distal.
|Think What other disorders involve trinucleotide repeat?
Other investigations are mainly to look for complications of Myotonic Dystrophy
Treatment again targets complications of Myotonic Dystrophy