Myofibrillar myopathy
Dernière mise à jour 5 Jan 2026
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Myofibrillar myopathy refers to a group of disorders that are characterised by muscle weakness (myopathy) that worsens over time. Myofibrillar myopathy primarily affects the skeletal muscles, which are the muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.
Description
Myofibrillar myopathy refers to a group of disorders that are characterised by muscle weakness (myopathy) that worsens over time. Myofibrillar myopathy primarily affects the skeletal muscles, which are the muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.
The signs and symptoms of myofibrillar myopathy vary widely among affected individuals. People with this disorder typically begin to develop myopathy in mid-adulthood. However, the features of this condition can appear anytime between infancy and late adulthood. Myopathy most often begins in the hands, forearms, feet, and lower legs (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). The weakness can spread to other muscles.
Other signs and symptoms of myofibrillar myopathy can include muscle pain (myalgia) or weakness and loss of sensation in the limbs (peripheral neuropathy). Affected individuals may also have skeletal problems, which can include joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Some people with myofibrillar myopathy develop clouding in the lenses of the eyes (cataracts).
Some people with myofibrillar myopathy develop cardiomyopathy, which is a weakening of the heart muscle. In some cases, cardiomyopathy is the first sign of the disorder.
In rare cases, the muscles used for speaking, swallowing, or breathing are affected in people with myofibrillar myopathy. When the muscles used for breathing are involved, affected individuals may experience extreme tiredness (fatigue), breathing difficulties, and, in severe cases, respiratory failure.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+New variant; X-linked. More than one pattern can apply in different cases.
Related genes
Other names
Myofibrillar myopathies
Related patient information and medicines
Patient information leaflet
Syndrome de réalimentation
Syndrome de réalimentation was first described in Far East prisoners after the second world war when they developed insuffisance cardiaque after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. Syndrome de réalimentation is a dangerous and life threatening shift de fluids and body salts (electrolytes) that can occur when.
Patient information leaflet
Puis-je prendre la Clarithromycine et la Rosuvastatine ensemble ?
Important precautions Drug-drug interaction (Myopathy/Rhabdomyolysis) Do not take these medicines together. Clarithromycin significantly... Use effective contraception while taking it and stop immediately if you think you are pregnant. Heart Rhythm Disorders (Long QT) Clarithromycin can affect your heart rhythm. Seek immediate medical help if you.
Patient information leaflet
Puis-je prendre Bisoprolol et Simvastatine ensemble ?
While rare, taking them together might slightly... Why this happens Bisoprolol is a beta-blocker used for heart rate and blood pressure, while simvastatine is a statine used for cholesterol. They are processed by different pathways in the liver and do not interfere with how the other is absorbed or removed from the body. Grapefruit contains a.
Patient information leaflet
Statines et autres médicaments hypolipémiants
Statines work by blocking the action of a certain chemical (enzyme) which is needed to make cholesterol, and by removing some forms of cholesterol from the blood. What are statins. Statins are a group of medicines that are commonly used to reduce the level of cholesterol in the blood. Types of statins Statins available on prescription include:.
Patient information leaflet
Puis-je prendre Clopidogrel et Fénofibrate ensemble ?
Taking clopidogrel and fenofibrate together may slightly increase the risk of bleeding or bruising. While this combination is often prescribed together for... Do not stop taking either medication without consulting your healthcare provider. Important precautions Muscle problems (Myopathy/Rhabdomyolysis) - fenofibrate You must contact your doctor.
Patient information leaflet
Puis-je prendre de l'Atorvastatine et de l'extrait de chardon-Marie ensemble ?
Taking milk thistle with atorvastatin might increase the levels of the medication in your bloodstream. This could potentially increase the risk of side effects, such as muscle aches, pain, or weakness (a condition called myopathy). Caution is advised when taking atorvastati and milk thistle together. Combining them may increase the amount of.
Lectures complémentaires et références
- Myofibrillar myopathy; MedlinePlus, National Library of Medicine.
- Du H, Chen Y, Zeng L, Wu R, Wu T, Zhu J. Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene. Int J Rheum Dis. 2024 Feb;27(2):e15036. doi: 10.1111/1756-185X.15036.
- Ferrer I, Olive M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793.
- Fichna JP, Maruszak A, Zekanowski C. Myofibrillar myopathy in the genomic context. J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10.
- Kley RA, Olive M, Schroder R. New aspects of myofibrillar myopathies. Curr Opin Neurol. 2016 Oct;29(5):628-34. doi: 10.1097/WCO.0000000000000357.
- Pagola-Lorz I, Vicente E, Ibanez B, Torne L, Elizalde-Beiras I, Garcia-Solaesa V, Garcia F, Delfrade J, Jerico I. Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region. Orphanet J Rare Dis. 2019 Dec 2;14(1):276. doi: 10.1186/s13023-019-1227-x.
- Schroder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009 Jul;19(3):483-92. doi: 10.1111/j.1750-3639.2009.00289.x.
- Selcen D, Bromberg MB, Chin SS, Engel AG. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology. 2011 Nov 29;77(22):1951-9. doi: 10.1212/WNL.0b013e31823a0ebe. Epub 2011 Nov 16.
- Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain. 2004 Feb;127(Pt 2):439-51. doi: 10.1093/brain/awh052. Epub 2004 Jan 7.
- Selcen D. Myofibrillar myopathies. Curr Opin Neurol. 2010 Oct;23(5):477-81. doi: 10.1097/WCO.0b013e32833d38b0.
- van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. Desmin-related myopathy. Clin Genet. 2011 Oct;80(4):354-66. doi: 10.1111/j.1399-0004.2010.01512.x. Epub 2010 Jul 21.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.