Laing distal myopathy
Última actualización 18 Aug 2020
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Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.
Descripción
Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.
In addition to muscle weakness in the hands and feet, Laing distal myopathy causes weakness in several muscles of the neck and face. A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Distal myopathy 1
Laing early-onset distal myopathy
MPD1
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Lecturas adicionales y referencias
- Laing distal myopathy; MedlinePlus, National Library of Medicine.
- Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, Dorosz S, Kozman H, Mastaglia FL, Kakulas BA. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet. 1995 Feb;56(2):422-7.
- Lamont P, Laing NG. Laing Distal Myopathy. 2006 Oct 17 [updated 2021 Feb 4]. 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/NBK1433/
- Lamont P, Wallefeld W, Davis M, Udd B, Laing N. Clinical utility gene card for: Laing distal myopathy. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.190. Epub 2010 Dec 8. No abstract available.
- Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):208-15. doi: 10.1136/jnnp.2005.073825. Epub 2005 Aug 15.
- Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 Aug 20.
- Udd B. Distal muscular dystrophies. Handb Clin Neurol. 2011;101:239-62. doi: 10.1016/B978-0-08-045031-5.00016-5.
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