Arthrogryposis Hub Institutes of Health. Arthrogryposis Multiplex congenita (amyoplasia) from Wheeless' Textbook of Orthopaedics. Arthrogryposis by http://www.knowdeep.org/arthrogryposis/
Extractions: Arthrogryposis is a musculoskeletal disorder, which is characterized by multiple joint contractures found throughout the body at birth. It occurs in 1 out of every 3000 live births. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities or maternal disorders. Frequently Asked Arthrogryposis Program Questions by KidsHealth - from the Nemours Foundation. Your child has been diagnosed with Arthrogryposis - by the Spokane Shriners Hospital. Arthrogryposis from eMedicine Journal - by Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center. Arthrogryposis by Orthoseek Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes - by U.S. National Library of Medicine, National Institutes of Health. Arthrogryposis Multiplex Congenita: (Amyoplasia) - from Wheeless' Textbook of Orthopaedics. Arthrogryposis by the CaF Directory - medical text updated by Dr C Pollitt, Specialist Registrar in Clinical Genetics, School of Biochemistry and Genetics, University of Newcastle, Newcastle upon Tyne, UK. Arthrogryposis Multiplex Congenita (AMC) - from the University of Alabama at Birmingham.
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: November 1, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: arthrogryposis multiplex congenita, multiple congenital contractures, multiple congenital joint contractures AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Harold Chen, MD, MS, FAAP, FACMG , Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center Harold Chen, MD, MS, FAAP, FACMG, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association American Society of Human Genetics , and Teratology Society Editor(s): James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago; Robert Konop, PharmD
Arthrogryposis the years, including arthrogryposis multiple congenita, multiple congenital contractures,amyoplasia, myodystrophica congenita, arthromyodysplasia congenita http://www.shrinershq.org/patientedu/arthrogryposis1.html
Extractions: ABOUT CURVED JOINTS Sixteen-year-old Jennifer Weaver, an arthrogryposis patient at Shriners Hospitals, exercises daily to improve muscle tone and body strength. Don't offer to open a door or carry books or a lunch tray for Jennifer Weaver. She'd rather do it herself, thank you. Although she admires chivalry, Jennifer cherishes her hard-earned independence even more. Born with a rare and crippling condition called arthrogryposis, 16-year-old Jennifer has managed to overcome many of the physical limitations that are now a distant memory. "I knew when she threw her crutches across the room at age 3 while yelling 'I hate those things!' that she was a fighter," recalls Jennifer's mom Pam. Today, Jennifer is manager of her high school drill team, a star soloist in the school choir and works out daily at the gym. About the only physical challenge she encounters these days are stairs, which can be tricky to negotiate with leg braces. Often at school, Jennifer's football playing buddies scoop her up, toss her over their shoulders and run up the stairs, while petite, 100 pound Jennifer yells in protest that she can do it herself. What is arthrogryposis?
~*~ Night Star's Castle ~*~ Most types of Arthrogryposis Multiplex congenita are not inherited; however, a rare arthrogryposis,present in 40% of cases, is a condition called amyoplasia. http://www.geocities.com/castlenightstar/arthroeng.html
Extractions: ~ Overview ~ ~ What is it? ~ Arthrogryposis translated from the Greek literally means "curved or hooked joints." Hence, this term is used to describe multiple joint contractures present at birth. There are many causes for congenital multiple joint contractures, and could be due to abnormal nerve or muscle development in the womb. However, the commonest form of arthrogryposis, present in 40% of cases, is a condition called amyoplasia. The child pictured at left looks much like I did when I was born. The boy in the painting below shows that AMC children lived past birth and it seems to have been painted in approx. 1700s. (Photo taken from Arthrogryposis: A Text Atlas ~ What causes it? ~ The cause of arthrogryposis is varied, and not entirely understood. Certainly, in many cases, abnormal nerve, muscle and connective tissue development is involved. Lack of movement of intrauterine movement is also responsible, as in oligohydramnios. Genetic factors do play a part in many cases, as do environmental factors like drugs. Incidence of arthrogryposis is one in 3,000 live births. ~ What are the symptoms? ~
VADA GEZONDHEID En ZIEKTE - HEALTH And DISEASE type 3 (Gordon syndrome) Arthrogryposis Multiplex congenita, Distal, Type IIA thumb-clubfoot syndrome.- Saethre-Chotzen syndrome - amyoplasia syndrome See http://www.vada.nl/medisch/medars.htm
Extractions: The National Association of the Physically Handicapped Public Guestbook Historical comments I need help in getting a van with a wheel chair lift for my wife. She has MS and Congestive heart failure. I have been out of work for a while taking care of her and our finances are just about nil. If anyone could give me some information on how I can get some financial help in getting a van I would greatly appreicate it. Thank you. QUEENS VILLAGE, ny USA - Monday, March 17, 2003 at 21:48:25 (EST) I have a sister who has a handicapp 24yr. old daughter who goes into seizures when she needs dental work done to your teeth. She cannot find anybody to see her because of her problem. There is only one doctor who has agreed to see her but charges her $1,000.00, and that's a lot to pay for especially when your in a budget. I am seeking financial help for her. PLEASE HELP!
Extractions: Jess Daniel Introduction Arthrogryposis Multiplex Congenita (AMC) is a musculoskeletal disorder characterized by the presence of multiple joint contractures (limitation of the range of motion of a joint) at birth. In some cases, only a few joints may be affected, however, in the classic cases of AMC, hands, wrists, elbows, shoulders, hips, feet, and knees are affected. In the more severe cases, joints in the back and jaw can be affected as well. In addition to having joint contractures, children also experience muscle weakness, which further limits movement. There may be as many as 10 to 20 different arthrogrypotic disorders, all with similar joint manifestations. However, the most common form of AMC is amyoplasia. There are many different causes of AMC, but typically it is a result of either problems with joint growth and development, decreased fetal movement (not enough room in the uterus to move), or problems with spinal development in the first 3 months of pregnancy. AMC occurs in 1 out of every 3,000 live births. In most cases, AMC is not inherited and does not occur more than once in a family. However, in about 30% of the cases, a genetic cause has been identified.
List Of Rare Diseases/A - Wikipedia mandibulofacial dysostosis; amyoplasia; Amyotonia congenita; Amyotrophiclateral sclerosis; Anablephobia; Anaphylaxis; Anaplastic thyroid http://www.wikipedia.org/wiki/List_of_rare_diseases
Extractions: Main Page Recent changes Edit this page Older versions Special pages Set my user preferences My watchlist Recently updated pages Upload image files Image list Registered users Site statistics Random article Orphaned articles Orphaned images Popular articles Most wanted articles Short articles Long articles Newly created articles Interlanguage links All pages by title Blocked IP addresses Maintenance page External book sources Printable version Talk
Extractions: Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, polydactyly and Hirschprung's disease S Sooriyabandara and A P R Aluwihare (Index words: Consanguinity, micrognathia, webbed neck) Summary A case of arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, postaxial poydactyly and Hirschprung's disease is described. It appears to be a new form of an autosomal recessive disorder. Introduction Arthrogryposis is a syndrome involving multiple persistent joint contractures in the intact skeleton at birth. Severity of the condition is variable. It is classified into two types, type I with only distal limb involvement, and type II with other defects. Numerous aetiological causes have been implicated, including genetic. In the genetic variety autosomal recessive, autosomal dominant and X-linked recessive forms of transmission have been reported. The classical form (type I), called amyoplasia (7), is always sporadic. Case report A 22-day old male neonate was admitted to the General Hospital Peradeniya, Sri Lanka, with abdominal distension and vomiting. He was a product of a consanguineous marriage. The mother was 28 years old at the time of conception. She had an uncomplicated pregnancy. The child was born at full term as a normal vaginal delivery in an estate hospital. A week later the mother noticed gradual distension of the neonate's abdomen. Subesquently, the child started vomiting several times a day, and was constipated for several days at a time.
Texas Medical Center News Dr. Barnes, a recognized expert in arthrogryposis, diagnosed Jennifer when she was2 days old with arthrogryposis multiplex congenita, or amyoplasia, the most http://www.tmc.edu/tmcnews/09_01_99/page_04.html
Extractions: 16-year-old Jennifer Weaver, an arthrogryosis patient at Shriners, exercises daily to improve muscle tone and body strength. Don't offer to open a door or carry books or a lunch tray for Jennifer Weaver. She'd rather do it herself, thank you. Although she admires chivalry, Jennifer cherishes her hard-earned independence even more. Born with a rare and crippling condition called arthrogryposis, 16-year-old Jennifer has managed to overcome many of the physical limitations that are now a distant memory. "I knew when she threw her crutches across the room at age 3 while yelling `I hate those things!' that she was a fighter," recalls Jennifer's mom Pam. Today, Jennifer is manager of her high school drill team, a star soloist in the school choir and works out daily at the gym. About the only physical challenge she encounters these days are stairs, which can be tricky to negotiate with leg braces. Often at school, Jennifer's football-playing buddies scoop her up, toss her over their shoulders and run up the stairs, while petite, 100-pound Jennifer yells in protest that she can do it herself. What is arthrogryposis?
NEUROMUSCULAR DISORDERS Arthrogryposis Multiplex congenita, amyoplasia This is a non progressivedisorder 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.
Birth Disorder Information Directory - M Arthrogryposis multiplex congenita lissencephaly. Mastocytosis Infantile See 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
156 Summary A case of arthrogryposis multiplex congenita distal type ri associatedwith The classical form (type I), called amyoplasia (7), is always sporadic. http://www.slmaonline.org/cmj/CMJ4604/156.htm
Extractions: Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, polydactyly and Hirschpning's disease S Sooriyabandara , and A P R Aluwihare Medical Officer; Base Hospital, Mawanella and Professor of Surgery, Faculty of Medicine, University of Peradeniya. (Revised version accepted 20 September 2001. Corresponding author 55) (Index words: Consanguinity, micrognathia, webbed neck) Summary Introduction Arthrogryposis is a syndrome involving multiple persistent joint contractures in the intact skeleton at birth. Severity of the condition is variable. Iris classified into two types, type I with only distal limb involvement, and type II with other defects. Numerous aetiological causes have been implicated, including genetic. In the genetic variety autosomal recessive, autosomal dominant and Xlinked recessive forms of transmission have been reported. The classical form (type I), called amyoplasia (7), is always sporadic. Case report A 22-day old male neonate was admitted to the General Hospital Peradeniya, Sri Lanka, with abdominal distension and vomiting. He was a product of a consanguineous marriage. The mother was 28 years old at the time of conception. She had an uncomplicated pregnancy. The child was born at full term as a normal vaginal delivery in an estate hospital. A week later the mother noticed gradual
Arthrogryposis ARTHROGRYPOSIS MULTIPLEX congenita (AMC). amyoplasia, characterized by fatty and fibroustissue replacement of the limb muscles, is the most common form (43%). 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.
Pakistani Medical And Health Portal Arthrogryposis Multiplex congenita amyoplasia This is a non progressivedisorder with multiple, congenitally rigid joints. It http://www.pakdoctor.com/health_professional/Orthopedic/NEUROMUSCULAR.htm
Extractions: 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.
Contractures l Similar EDMD phenotypes may be Sporadic May have lamin A/C or, less commonly,emerin mutations Arthrogryposis multiplex congenita (AMC). Best amyoplasia. http://www.neuro.wustl.edu/neuromuscular/msys/contract.html
Arthrogryposis Multiplex Congenita and knees. Proximal arthrogryposis occurs in neonates with amyoplasiacongenita. Figure 152.1. Trisomy 18 hand position. The http://pediatricneuro.com/alfonso/pg152.htm
Extractions: MainMenu Back Next Index A pivotal step in the management of arthrogryposis multiplex congenita is to determine its cause. The cause of the arthrogryposis multiplex congenita determines the prognosis and recurrence rate of the disease. There are many causes of arthrogryposis multiplex congenita in neonates. Smiths book on recognizable patterns of human malformation lists arthrogryposis multiplex congenita as a feature of over 100 syndromes. The differential diagnosis among these syndromes is made by analyzing the distribution of the arthrogryposis, the presence of facial dysmorphism, and other associated findings. Arthrogryposis multiplex congenita may involve the distal or the proximal joints. Involvement of the distal joints is more frequent than involvement of the proximal joints. Neonates with distal arthrogryposis often have a very typical hand position (Figure 152.1). This typical hand position is frequently present in trisomy 13 and 18 syndromes, Pena-Shokeir I and II syndromes, and Smith-Lemli-Opitz syndrome. Proximal arthrogryposis usually involves the shoulders, elbows, hips, and knees. Proximal arthrogryposis occurs in neonates with amyoplasia congenita.
Extractions: An orphan or rare disease is generally considered to have a prevalence of less than 200,000 affected individuals in the USA. Certain diseases with more than 200,000 affected individuals are included but subpopulations of these conditions may be less than the prevalence standard for rare disease. This list includes rare diseases and conditions for which information requests have been made to the Office of Rare Diseases. It is updated on a regular basis. We welcome suggestions for additions to the list and your recommendations may be sent via email to: ord@od.nih.gov Please Note: The names of the conditions (listed in alphabetical order) may not necessarily be the most frequently used ones. Clicking on one of the names below will take you to a page that contains information specific for that disease. The links on that page will take you to several sources of information, including: ClinicalTrials.gov, an NIH site that lists ongoing clinical trials; Online Mendelian Inheritance in Man (OMIM), an NIH site authored and edited by Johns Hopkins University, with information on specific genetic diseases; and
Birth Disorder Information Directory - A Hypertrichosis See Jalili Syndrome. Ambras Syndrome (Hypertrichosis UniversaslisCongenita, Ambras Type) Disease. amyoplasia amyoplasia. Amyotrophy http://www.bdid.com/defectag.htm
Extractions: HOME Aganglionosis Aganthia Agammaglobulinemia Agenesis of the Cerebellar Vermis Agenesis of the Corpus Callosum Aglossia Adactylia (Oromandibular Limb Hypoplasia) Agnathia Agyria-Pachygyria Aicardi Syndrome Aicardi-Goutieres Syndrome (Encephalopathy-Basal Ganglia Calcification) Aksu Stockhausen Syndrome (Branchial Arch Defects) Al-Awadi Farag Teebi Syndrome (Primary Hypogonadism with Partial Alopecia) Al awadi farag teebi syndrome HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA
