MUMS List Of Disorders - A Multiplex congenita (19) *; Arthrogryposis Multiplex congenita, amyoplasia Type (1); Arthrogryposis, Classic (1) *; Arthrogryposis, Distal http://www.netnet.net/mums/mum_a.htm
Extractions: indicates there is a support group which covers that diagnosis. 2 Hydroxic Gluteric Urea (1) 2 Keto Adepic Aciduria (1) 3 Hydroxy 3-Methylglutaryl CoAlyase Deficiency (HMG) (1) * 3 Methycrotonyl CoA Carboxylase Deficiency (3MCCC) (1) 3 Methylglutaconic Aciduria (4) 4 Hydroxybutyric Aciduria (1) 4A Syndrome(Adrenocortical Insufficiency, Alacrima, Achalasia,Autonomic)(1) 5 Alpha Reductase Deficiency (1) * 5 Oxoprolinuria (Pyroglutamic Aciduria) (1) 18 Hydroxylase Deficiency (Adrenal Hyperplasia) (1) 21 Hydroxylase Deficiency (Adrenal Hyperplasia) (18) ** ACTH Deficiency (1) AIDS (Acquired Immune Deficiency Syndrome) (6) ** Aarskog Syndrome (8) ** Abdominal Chylous Ascites (abdomen fills w/fluid) (4) Abdominal Migraines (2) Abdominal Teratoma Tumor (5) Abetalipoproteinemia (4) * Abetalipoproteinemia (Bassen-Kornzweig Syndrome) (1) * Absence of Arm Below Elbow, Congenital (25) * Absence of Arms (Severed in accident) (2) * Absence of Arms, Hands attached to shoulder (1) *
Blackwell Synergy - Cookie Absent 9, Hall JG, Reed SD, Driscoll EP Part I. amyoplasia. A common, sporadic condition with congenital contractures. Am. J. Med. Genet. http://www.blackwell-synergy.com/links/doi/10.1046/j.1440-1754.1998.00296.x/full
Extractions: Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.
Blackwell Synergy - Cookie Absent Arthrogryposis multiplex congenita may be classified by the pattern of involvement of the joints, amyoplasia being the most common form comprising onethird of http://www.blackwell-synergy.com/links/doi/10.1046/j.1471-0528.2002.01170.x/full
Extractions: Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.
NEUROMUSCULAR DISORDERS Arthrogryposis Multiplex congenita, amyoplasia This is a non progressive disorder with multiple, congenitally rigid joints. It http://www.worldortho.com/database/etext/neuromuscular.html
Extractions: NEUROMUSCULAR DISORDERS Information relating to all listed Neuromuscular disorders is given, in the ensuring text. HEREDITARY NEUROPATHIES The Hereditary Neuropathies category includes all disorders associated with multiple G.N.S. lesions This involves motor and sensory defects. It is a spinocerebellar degenerative disease with manifests before age 10. The symptoms include nystagmus, casus foot, cardiomyopathy, scoliosis and a distinct change in gait. Charcot - Marie - Tooth Disease [Peroneal Muscular Atrophy] There are two forms, one manifesting during teenage years [a hypertrophic form] and a neuronal form manifesting in later life. Patients suffering the hypertrophic form exhibit peroneal weakness, hammer toes causing corns and callouses, pes cavus and stork legs. Treatment includes plantar release triple arthrodesis versus calcaneal, posterior tibial tendon transfer and possibly, metatarsal osteotomies. This form involves motor defects much more than sensory defects Dejerine - Sottas Disease - AR.
Judith G. Hall (www.whonamedit.com) JG Hall, SD Reed, EP Driscoll Part I. amyoplasia a common, sporadic condition with congenital contractures. American Journal of http://www.whonamedit.com/doctor.cfm/533.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. I am a clinical geneticist primarily interested in congenital anomalies, genetics of short stature, and connective tissue abnormalities, with a particular interest in the natural history and clinical heterogeneity of these disorders. I have worked extensively on arthrogryposis, various types of dwarfism, Turner syndrome, neural tube defects, and syndrome identification. Since nontraditional patterns of inheritance are seen in many congenital anomalies, I am also involved in defining mosacism, genomic imprinting, parent of origin affects, and mechanisms of disease. My work has involved collaborations with lay groups for specific disease entities and involves explaining and counselling about the consequences of the available care options. It also has involved the development of guidelines for the care of common disorders, such as achondroplasia and Turner syndrome.
THE MERCK MANUAL, Sec. 19, Ch. 261, Congenital Anomalies Congenital myopathies, anterior horn cell disease, and maternal myasthenia gravis have been proposed as causes of the associated amyoplasia. http://www.merck.com/mrkshared/mmanual/section19/chapter261/261g.jsp
Birth Disorder Information Directory - M Craniosynostosis) Congenital heart disease ptosis hypodontia craniosynostosis. Meier Rotschild Syndrome (amyoplasia Mandibulofacial Dysostosis) http://www.bdid.com/defectm.htm
Extractions: HOME Machado Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia) Macrencephaly Macrocephaly Macrodactyly/Megalodactyly Macroglossia Macrogyria Macular Dystrophy Macules Madelung's Deformity Majewski Syndrome Mal de Meleda Male Pseudohermaphroditism Due to Androgen Insensitivity Male Turner Syndrome Malignant Hyperthermia See Hyperthermia, Malignant
Arthrogryposis Definition AMC is a nonprogressive congenital neuromuscular syndrome characterized by amyoplasia, characterized by fatty and fibrous tissue replacement of the http://www.dpo.uab.edu/~birmie/amc.htm
Extractions: The principle cause of AMC is believed to be decreased fetal movements (akinesia) caused by maternal or fetal abnormalities. It is associated with neurogenic and myopathic disorders. It is believed that the neuropathic form of AMC involves a deterioration in the anterior horn cell leading to muscle weakness and fibrosis.
