[MIM 232 600]

(Glycogen storage disease type V,  myophosphorylase B deficiency)

Rare 1/100.000, but probably underestimated incidence: it is the most common of the glycogen storage diseases. Autosomal recessive transmission of a mutation in the PYGM gene on 11q13 that leads to partial or total muscle glycogen phosphorylase deficiency.

Generally, almost no symptoms in childhood (mean age at diagnosis: 25 years): muscle pain or cramps during efforts, signs of rhabdomyolysis (high CPK level even at rest in 90 % of cases), sometimes myoglobinuria after strenuous exercice (62 %). Most patients note a second "wind" during exercise: after a first strenuous effort, they observe a marked improvement in their exercise capacity, the same performance being obtained  with less effort. This is probably due to muscular vasodilation and the increased use of substrates other than glucose such as free fatty acids.

There are rare very disabling cases with important cramps  and frequent myoglobinuria.

After the age of 40 years: amyotrophy with muscular weakness with a proximal and symmetrical or scapulohumeral and asymmetrical topography: high body mass index (linked to the poor tolerance to exercise) (60 %), risk of hypothyroidism

An association between the severity of the clinical impairment and the polymorphism of the angiotensin converting enzyme D allele was discovered: some patients have a good response to a treatment with conversion enzyme inhibitors.

Some cases of a rapidly fatal infant form have been reported.

Anesthetic implications:

risk of rhabdomyolysis in case of muscle ischemia or hypoglycemia. Succinylcholine is contraindicated (risk of hyperkalemia). Avoid surgical tourniquets and the too frequent use of an automatic cuff to measure BP. Infusion of a glucose-containing solution and monitoring of  blood glucose levels. Avoid hypothermia (shivering). Positive in vitro halothane and caffeine muscular contracture tests (and hence a susceptibility to malignant hyperthermia) have been reported but no clinical observations of malignant hyperthermia have been reported so far.

References : 

•        Lobato EB, Janelle GM, Urdaneta F, Malias MA. 
  Noncardiogenic pulmonary edema and rhabdomyolysis after protamine administration in a patient with unrecognized McArdle's disease. 
  Anesthesiology 1999 ; 91 : 303-5.

•        Bollig G, Mohr S, Raeder J. 
  McArdle’s disease and anaesthesia: case reports. Review of potential problems and association with malignant hyperthermia. 
  Acta Anaesthesiol Scand 2005; 49:1077-83.
•        Litman RS. 
  MH-associated diseases: who really needs a non-triggering technique ? 
  Sem Anesth, Periop Med Pain. 2007; 26:113-9. 
•        Benca J, Hogan K. 
  Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. 
  Anesth Analg 2009; 109:1049-53.
•        DiMauro S, Spiegel R. 
  Progress and problems in muscle glycogenoses. 
  Acta Myologica 2011; 30: 96-102.
•        Choleva AJ. 
  Anesthesia considerations in a patient with McArdle disease: a case report. 
  AANA Journal 2011; 79: 243-7.
•        Bollig G. 
  McArdle’s disease(glycogen storage disease type V) and anesthesia: a case report and review of the literature. 
  Pediatr Anesth 2013; 817-23
•        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
  Mise au point : les thrombopénies constitutionnelles.
  J Pediatrie et Puériculture 2018 ; 31 : 160-7.

Updated: December 2020