Brody, syndrome
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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