Brody syndrome: A clinically heterogeneous entity distinct from Brody disease

Abstract Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca2+ ATPase (SERCA)1 activity caused by mutations in ATP2A1 , which causes delayed muscle relaxation and silent cramps. So far the disease has mostly been diagnosed by measurement of SERCA1 activity. Since muta...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2012-11, Vol.22 (11), p.944-954
Main Authors: Voermans, N.C, Laan, A.E, Oosterhof, A, van Kuppevelt, T.H, Drost, G, Lammens, M, Kamsteeg, E.J, Scotton, C, Gualandi, F, Guglielmi, V, van den Heuvel, L, Vattemi, G, van Engelen, B.G
Format: Article
Language:English
Subjects:
Brody disease
Brody myopathy
Brody syndrome
Ca ATPase
Delayed relaxation
Neurology
SERCA1
Silent cramps
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Summary:Abstract Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca2+ ATPase (SERCA)1 activity caused by mutations in ATP2A1 , which causes delayed muscle relaxation and silent cramps. So far the disease has mostly been diagnosed by measurement of SERCA1 activity. Since mutation analysis became more widely available, it has appeared that not all patients with reduced SERCA1 activity indeed have ATP2A1 mutations, and a distinction between Brody disease (with ATP2A1 mutations) and Brody syndrome (without ATP2A1 mutations) was proposed. We aim to compare the clinical features of patients with Brody disease and those with Brody syndrome and detect clinical features which help to distinguish between the two. In addition, we describe the Brody syndrome phenotype in more detail. We therefore performed a literature review on clinical features of both Brody disease and Brody syndrome and a cross-sectional clinical study consisting of questionnaires, physical examination, and a review of medical files in 17 Brody syndrome patients in our centre. The results showed that Brody disease presents with an onset in the 1st decade, a generalized pattern of muscle stiffness, delayed muscle relaxation after repetitive contraction on physical examination, and autosomal recessive inheritance. Patients with Brody syndrome more often report myalgia and experience a considerable impact on daily life. Future research should focus on the possible mechanisms of reduction of SERCA activity in Brody syndrome and other genetic causes, and on evaluation of treatment options.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2012.03.012