Spinal muscular atrophy 1
Other Names for this Disease
- Werdnig-Hoffmann disease
- Werdnig Hoffmann disease
- Muscular atrophy, infantile
- SMA, infantile acute form
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spinal muscular atrophy. Symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. Feeding and breathing problems are also present. SMA1 is caused by changes (mutations) in the SMN1 gene and is typically inherited in an autosomal recessive manner. Around 2% of cases are not inherited and are due to new mutations in the affected person. Treatment is symptomatic and aims to improve quality of life.Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a severe type of
Last updated: 1/21/2015
- Haluk Topaloglu. Proximal spinal muscular atrophy type 1. Orphanet. July, 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330.
- Kaneshiro NK, Hoch DB. Spinal muscular atrophy. MedlinePlus. 2008; http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm. Accessed 10/21/2009.
- Spinal muscular atrophy. Genetics Home Reference (GHR). January 2013; http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy. Accessed 4/6/2015.
- Families of SMA has created a booklet entitled Understanding SMA that is intended to serve as a source of information and support for children and adults with Spinal Muscular Atrophy (SMA).
- Genetics Home Reference (GHR) contains information on Spinal muscular atrophy 1. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Spinal muscular atrophy 1. Click on the link to view a sample search on this topic.