Early-onset myopathy with fatal cardiomyopathy
Dernière mise à jour 13 janv. 2023
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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.
Description
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
EOMFC
Salih CMD
Salih congenital muscular dystrophy
Salih myopathy
Titinopathy & early-onset myopathy with fatal cardiomyopathy
Related patient information and medicines
Patient information leaflet
Maladies cardiaques
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Patient information leaflet
Cardiomyopathie dilatée
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Syndrome de réalimentation
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Dystrophie musculaire de Duchenne
Boys with Duchenne muscular dystrophy should have regular reviews and physiotherapy from childhood. This type of treatment has improved over recent years, which has helped to i... Heart (cardiac) complications Teenagers and adults with DMD may develop a heart problem called cardiomyopathy , which means weakness of the heart muscle. With DMD, the.
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Hémochromatose
'Scarring' (cirrhosis) of the liver. Disease of the heart muscle (cardiomyopathy). Most of these symptoms are found in other disorders and so diagnosis can be difficult. Arthritis found only in the... The possible complications of haemochromatosis include: Diabetes due to damage to the pancreas. Cœur disease -for example it can lead to the heart.
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Dissection aortique
An aortic dissection is a rare, serious condition. The inner layer of the aorta (the biggest blood vessel in the body, coming directly from the heart) tears. Blood then surges through the tear. This causes the inner and middle layers of the aorta to separate (dissect). Aortic dissection is a medical emergency and needs urgent treatment. The.
Lectures complémentaires et références
- 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.
Historique de l'article
Article également disponible en Anglais, Allemand, Espagnol, Français, Italien, Portugais, Hindi, Hébreu, Arabe, and Suédois.
13 janv. 2023 | Dernière version
1 Feb 2012 | Publié à l'origine
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