Myofibrillar myopathy
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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.
Descrizione
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.
Modelli di ereditarietà
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
Altri nomi
Myofibrillar myopathies
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Ulteriori letture e riferimenti
- 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.
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