Brody disease
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Brody disease. This is caused by mutations in the ATP2A1 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ATP2A1 gene
- The gene encodes the sarcoplasmic reticulum Ca ATPase (SERCA 1)
- The transmission is autosomal recessive
Onset and course
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Clinical features
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Functional difficulties
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Trigger factors
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Absent features
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Electromyogram (EMG)
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Other investigations
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Treatment
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References
- Molenaar JP, Verhoeven JI, Rodenburg RJ, et al. Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients. Brain 2020; 143:452-466.
- Voermans NC, Laan AE, Oosterhof A, 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; 22:944-954.
- Bergstrom C, Remz M, Khan S, McNutt M 2nd. Brody myopathy presenting as recurrent rhabdomyolysis. Am J Med 2021; 134:e429-e430.
- Sambuughin N, Zvaritch E, Kraeva N, et al. Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. Mol Genet Genomic Med 2014; 2:472-483.
- Velardo D, Antognozzi S, Rimoldi M, et al. Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy. Front Neurol 2023; 14:1170071.
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