Brody disease
Evidence-based neurology checklist on brody disease: 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 Clinical features Functional difficulties Trigger factors Absent…
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
Clinical features
Functional difficulties
Trigger factors
Absent features
Electromyogram (EMG)
Other investigations
Treatment
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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