Conventionally, they are defined as muscular diseases characterized by an anomaly of muscle structure(s). They are little or not progressive and result mainly in orthopedic problems (scoliosis, contractures). Their morbidity and mortality are mainly related to respiratory failure. Primitive heart impairment is very rare and intelligence is often normal.

They are:

-        * the central core disease or Shy-Magee syndrome

-        * the multicore or multiminicore myopathy

-        * the native Americans myopathy

-        * congenital disproportion of the types of muscle fibers

-        rod myopathy (nemaline rod myopathy)

-  centronuclear or myotubular myopathy

-        hyaline body myopathy

-        sarcotubular myopathy

-        * King-Denborough syndrome

-        myopathy with tubular aggregates

-        myopathy with fingerprint bodies

-        necklace-shaped fibres myopathy

-        trilaminar myopathy

-        cap myopathy

-        myopathy with fibre in mosaic

-        wide strip A disease

-        myopathy with lamellar bodies

-        myopathy with excess of muscle spindles

-        zebra body myopathy

Some of these myopathies (*) are associated with a risk of malignant hyperthermia.

References : 

• Fanning R, O’Donnel B, Lynch B, Stephens M, O’Donovan F. 
  Anesthesia for sickle cell disease and congenital myopathy in combination. 
  Pediatr Anesth 2006 ; 16 : 880-3.
• Christiaens F, Van den Bergh PYK. 
  Les myopathies congénitales. 
  Louvain Med 2014 ; 133 : 478-90.
• North K, Wang C, Clarke N, Jungbluth H, Vainzof M, Dowling J et al. 
  Approach to the diagnosis of congenital myopathies. 
  Neuromuscul Disord 2014 ; 24 : 97-116.

Updated: November 2018