Very rare.

De novo mutation or

-        CNM1: autosomal dominant transmission of a mutation of the DNM2 (19q13.2) gene coding for dynamin 2 [MIM 160 150]

-        CNM2: autosomal recessive transmission of a mutation of the BIN1 gene (2q14.3) coding for amphiphysin [MIM 255 200]

-        autosomal dominant transmission of a mutation of the RYR1 gene which could confer a susceptibility to malignant hyperthermia (see this term, MHS1)

-        autosomal recessive transmission of a mutation of the TTN gene (2q31.2) coding for titin (see titinopathies)

-        CNM4: autosomal recessive transmission of a mutation of the SPEG gene (2q35)  [MIM 615 959]

-        CNM5: autosomal recessive transmission of a mutation of the CCDC78 gene (16p16.3)  [MIM 614 807]

-        CNM6:  autosomal recessive transmission of a mutation of the ZAK gene (2q31.1) [MIM 617 760]

-        an X-linked form also known as myotubular myopathy (see this term) [MIM 310 400]: mutation of the MTM1 gene (Xq27.3-q28) coding  for myotubularin: polyhydramnios, rare fetal movements, hypotonia and respiratory distress at birth. In survivors: macrosomia (> P90), pyloric stenosis, hepatic angioma, external ophthalmoplegia. Although only boys are theoretically affected, a few female cases have been described (inactivation of the wild X chromosome, composite mutation).

At histological examination, the nuclei of the muscle cells are gathered at the centre and not in the sarcolemma. Moreover muscle fibres keep an immature tube-shaped appearance ("myotube").

Onset in childhood, more rarely in adulthood: generalized (mostly proximal) muscle weakness often associated with ophthalmoplegia or ptosis.

Anesthetic implications:

management for a patient at risk of malignant hyperthermia (autosomal dominant form); monitor the curarization (reduced muscle mass) and the decurarization: it is better to use the accelerometer (TOF Watch) on the clinically less affected muscles.

On the experimental model of Labrador dogs suffering from the autosomal recessive form of centro-nuclear myopathy :

-        the administration of succinylcholine do not result in hyperkalemia or signs of rhabdomyolysis. However, the neuromuscular block is more long-lasting than in normal dogs

-        administration of cisatracurium and vecuronium does not make any difference compared to the control group, but the work by neostigmine was slower.

References : 

• Quinn RD, Pae WE, McGary S, Wickey GS. 
  Development of malignant hyperthermia during mitral valve replacement. 
  Ann Thor Surg 1992; 53: 1114-6.
• Price SR, Currie J. 
  Anaesthesia for a child with centronuclear myopathy. 
  Pediatr Anesth 1995; 5: 267-8.
• Gottschalk A, Heiman-Patterson T, deQuevedo R, Quinn PD. 
  General anesthesia for a patient with centronuclear (myotubular) myopathy.
  Anesthesiology 1998 ; 89 : 1018-20.
• Tokarz A, Gaszynski T, Gaszynski W, Arkuszewski P. 
  General anaesthesia with remifentanil and propofol for a patient with centronuclear (myotubular) myopathy. 
  Eur J Anaesthesiol 2002; 19: 842-4.
• Breslin D, Reid J, Hayes A, Mirakhur RK. 
  Anaesthesia and myotubular (centronuclear) myopathy. 
  Anaesthesia 2000 ; 55 : 471-4.
• 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.
• Martin-Flores M, Paré MD, Campoy L, Romano M, Tomak EA, Gleed RD.  
  The kaliemic and neuromuscular effects of succinylcholine in centronuclear myopathy- A pilot investigation in a canine model. 
  Eur J Anaesthesiol 2015; 32: 666-71.
• Martin-Flores M, Paré MD, Campoy L, Gleed RD.
  Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy.
  Br J Anaesth 2015; 115: 927-31.
• Benarroch L, Bonne G, Rivier F, Hamroun D.
  The 2020 version of the gene table of neuromuscular disorders.
  Neuromusc Dis 2019 ; 29 : 980-1018 ou  http://www.musclegenetable.fr.

Updated: February 2024