Very rare. Autosomal dominant or recessive transmission. 

Similar clinical presentation as in Brody disease but:

-         absence of mutations in the ATP2A1 gene (16p12): it is either a particular entity (mutations in the ATP2A2 gene coding for SERCA2, present in slow muscle fibers) or a secondary deficiency due to hypothyroidism or a mitochondrial disease.

-         onset in adolescence or adulthood

-         in general, only a few muscle groups are affected

-         muscle stiffness is accompanied by myalgia 

Anesthetic implications: 

check the thyroid function and blood lactates (mitochondrial function). Avoid succinylcholine and hypothermia.

References : 

-         Voermans NC, Laan AE, Oosterhof A, van Kuppevelt TH et al. 
Brody syndrome: a clinically heterogenous entity distinct from Brody disease. A review of literature and a cross-sectional clinical study in 17 patients. 
Neuromuscul Disord 2012; 22: 944-54

Updated: November 2019