Laing distal myopathy
Other Names for this Disease
- Laing early-onset distal myopathy
- Myopathy distal, type 1
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Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the
Last updated: 4/1/2011
- Laing distal myopathy. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/laing-distal-myopathy. Accessed 4/1/2011.
- Genetics Home Reference (GHR) contains information on Laing distal myopathy. This website is maintained by the National Library of Medicine.
- The Muscular Dystrophy Association has an information page entitled Facts on Myopathies. Click on Muscular Dystrophy Association to view the information page.
- The MerckManual has an information page on congenital myopathies. Click on MerckManual to view the information page.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- eMedicine has an article on congenital myopathy that includes information on Laing distal myopathy. You may need to register to view the information online, but registration is free. Click on the link above to view the article from this medical reference Web site.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Laing distal myopathy. Click on the link to view a sample search on this topic.
- 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.
- 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. Epub 2005 Aug 15.