Early-onset myopathy with fatal cardiomyopathy
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Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterised by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.
Descrizione
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterised by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.
A form of heart disease called dilated cardiomyopathy is another feature of EOMFC. Dilated cardiomyopathy enlarges and weakens the cardiac muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. The heart abnormalities associated with EOMFC usually become apparent in childhood, after the skeletal muscle abnormalities. The heart disease worsens quickly, and it often causes heart failure and sudden death in adolescence or early adulthood.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
EOMFC
Salih CMD
Salih congenital muscular dystrophy
Salih myopathy
Titinopathy & early-onset myopathy with fatal cardiomyopathy
Related patient information and medicines
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Ulteriori letture e riferimenti
- Early-onset myopathy with fatal cardiomyopathy; MedlinePlus, National Library of Medicine.
- Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007 Apr;61(4):340-51. doi: 10.1002/ana.21089.
- Hackman P, Savarese M, Di Feo MF, Udd B, Salih MA. Salih Myopathy. 2012 Jan 12 [updated 2025 Apr 3]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK83297/
- Salih MA, Al Rayess M, Cutshall S, Urtizberea JA, Al-Turaiki MH, Ozo CO, Straub V, Akbar M, Abid M, Andeejani A, Campbell KP. A novel form of familial congenital muscular dystrophy in two adolescents. Neuropediatrics. 1998 Dec;29(6):289-93. doi: 10.1055/s-2007-973579.
- Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis. 2016 Aug 30;3(3):293-308. doi: 10.3233/JND-160158.
- Subahi SA. Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). Pediatr Cardiol. 2001 Jul-Aug;22(4):297-301. doi: 10.1007/s002460010233.
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