Details of Disease

General Information of Disease (ID: DIST9BGP)

• Disease Name: Brody myopathy
• Synonyms: Brody disease; sarcoplasmic reticulum -Ca2+ATPase deficiency; Brody myopathy
• Definition: Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.
• Disease Hierarchy:
  DISD614M: Qualitative or quantitative defects of protein SERCA1
  DISD715V: Hereditary neurological disease
  DISU0K94: Hereditary skeletal muscle disorder
  DISOWG27: Myopathy
  DIST9BGP: Brody myopathy
• Disease Identifiers:
  MONDO ID: MONDO_0010977
  MESH ID: C536607
  UMLS CUI: C1832918
  OMIM ID: 601003
  MedGen ID: 371441
  Orphanet ID: 53347
  SNOMED CT ID: 703530005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP2A1	OT959A3A	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.