Brody's disease

Classification according to ICD-10
G71.8	Other primary myopathies
ICD-10 online (WHO version 2019)

The Brody myopathy , including Brody myopathy , is a rare genetic muscle disorder , which usually manifests itself even in childhood. The incidence of the disease is estimated at 1: 10,000,000. It is caused by a reduced activity of SERCA1 in the skeletal muscles, a Ca ²⁺ -ATPase of the sarcoplasmic reticulum , which transports calcium against the gradient from the cytosol into the lumen of the sarcoplasmic reticulum. The coding gene is called ATP2A1 . The disease can both autosomal - recessive as autosomal dominant inherited.

Clinical picture

The clinical picture is characterized by delayed muscle relaxation ( relaxation ) of the muscles after muscle contraction , similar to myotonic diseases. The muscles are stiff, especially after intense activity, and need a few minutes to fully relax. Creatine kinase (CK) is normal or slightly increased. The electromyography showed no myotonic or pseudomyotonen discharges, not even during the muscle stiffness.

history

The disease was named after the first person to describe it, Irvin A. Brody , who published the first case in the New England Journal of Medicine in 1969 .

literature

V. Guglielmi, G. Vattemi u. a .: SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. In: Molecular Genetics and Metabolism. Volume 110, Number 1-2, 2013 Sep-Oct, pp. 162-169, ISSN 1096-7206 . doi : 10.1016 / j.ymgme.2013.07.015 . PMID 23911890 .
NC Voermans, AE Laan u. a .: Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients. In: Neuromuscular disorders: NMD. Volume 22, Number 11, November 2012, pp. 944-954, ISSN 1873-2364 . doi : 10.1016 / j.nmd.2012.03.012 . PMID 22704959 .
Brody myopathy. In: Online Mendelian Inheritance in Man . (English), last accessed October 9, 2013
G. Vattemi, F. Gualandi et al. a .: Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation. In: Journal of Neuropathology & Experimental Neurology , Volume 69, Number 3, March 2010, pp. 246-252, ISSN 1554-6578 . doi : 10.1097 / NEN.0b013e3181d0f7d5 . PMID 20142766 .

Individual evidence

^ IA Brody: Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor. In: The New England journal of medicine Volume 281, Number 4, July 1969, pp. 187-192, ISSN 0028-4793 . doi : 10.1056 / NEJM196907242810403 . PMID 4239835 .

[1] IA Brody: Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor. In: The New England journal of medicine Volume 281, Number 4, July 1969, pp. 187-192, ISSN 0028-4793 . doi : 10.1056 / NEJM196907242810403 . PMID 4239835 .