GENETIC MUSCLE DISEASES: NEW INSIGHT INTO THE BASIS OF THE MYOTONIC DYSTROPHIES

Abstract

Neuromuscular diorders can be divided into 1) myopathies, primary disease of the
muscle fiber, 2) myasthenias, diseases caused by defects of the neuromuscular junction and 3)
neurogenic muscular atrophies, caused by the defects of the motor nerve. Muscular
dystrophies are a heterogeneous group of myopathies. They are genetic disorders caused by
muscle fiber degeneration often causing progressive weakness and wasting and they can be
further divided into the following
Myotonic dystrophies – DM1 andDM2
Dystrophinopathies - DMD, BMD
Facioscapulohumeral - FSHD
Limb-girdle – LGMD subtypes
Distal muscular dystrophies
Congenital dystrophies - CMD
Oculofaryngeal - OPM, OPDM
Emery-Dreifuss - X-EMD, AD-EMD
Other and unclassified muscular dystrophies