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         Amyoplasia Congenita:     more detail

61. Arthrogryposis Hub
Institutes of Health. Arthrogryposis Multiplex congenita (amyoplasia) from Wheeless' Textbook of Orthopaedics. Arthrogryposis by
http://www.knowdeep.org/arthrogryposis/
Arthrogryposis hub
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.

62. EMedicine - Arthrogryposis : Article By Harold Chen, MD, MS, FAAP, FACMG
amyoplasia is a sporadic condition and has not been geleophysic syndrome, synspondylism,spondyloepiphyseal dysplasia congenita, and otospondylometaepiphyseal
http://www.emedicine.com/ped/topic142.htm
(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
Arthrogryposis
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

63. Arthrogryposis
the years, including arthrogryposis multiple congenita, multiple congenital contractures,amyoplasia, myodystrophica congenita, arthromyodysplasia congenita
http://www.shrinershq.org/patientedu/arthrogryposis1.html

Home
Shrine Shriners Hospitals Hospital Directory ... Next
STRAIGHT TALK
ABOUT CURVED JOINTS
Help for Patients with Arthrogryposis
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?

64. ~*~ 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
~ 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? ~

65. 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
VADA - GEZONDHEID en ZIEKTE
HEALTH and DISEASE
AR - AS
OPGELET - ATTENTION
Patienten en leken die raadgevingen/adviezen/informatie zoeken via deze verzameling links wordt dringend geadviseerd de verzamelde informatie te bespreken met de (behandelend) arts/specialist/hulpverlener.
Patients and lay persons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider.
ARACHNOIDALE CYSTEN ARACHNOID CYSTS
See also: HERSENCYSTEN
  • Hersencysten Arachnoïdale Cysten, Colloidcysten, Dermoid- en epidermoidcysten, Cysten bij hersentumoren, Cysten bij craniofaryngeoom
  • NIH: Arachnoid Cysts
    ARACHNOIDITIS
    See also: INFECTIES van het CENTRALE ZENUWSTELSEL CENTRAL NERVOUS SYSTEM INFECTIONS
  • Arachnoiditis mini fact sheet - NINDS (US)
  • The COFWA Support Group
  • About Arachnoiditis ] - Louisville (US)
  • Arachnoiditis Discussions - NeuroWebForum, MGH (US)
  • The UK Arachnoiditis Trust
  • Arachnoiditis
    ARAKAWA SYNDROOM 1 ARAKAWA SYNDROME 1 ARAKAWA SYNDROOM 2 ARAKAWA SYNDROME 2
  • Multiple Congenital Anomaly/Mental Retardation Database: Arakawa Syndrome 1
  • Multiple Congenital Anomaly/Mental Retardation Database: Arakawa Syndrome 2
    ARBEIDSOMSTANDIGHEDEN ARBO
    See also: LAWAAI NOISE
  • Bureau Beroepsziekten FNV: Arbowetgeving
  • Wilco's digitale Arbodienst Vooral de arbo hand-outs bevatten interessante feiten over beeldschermwerk, elektromagnetische straling en zaktelefoons, verlichting op het werk en aanverwante zaken
  • 66. The National Association Of The Physically Handicapped Public Guestbook
    She is 12 and was bor with Arthrogryposis multiplex congenita amyoplasia. Sheis 12 and was bor with Arthrogryposis multiplex congenita amyoplasia.
    http://www.naph.net/guestcomments/naphbook.html
    The National Association of the Physically Handicapped
    Public Guestbook
    We invite you to add any comments or suggestions . You may need to refresh the guestbook to view new comments!
    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.

    terrytlf@msn.com

    Pikeville , tn USA - Wednesday, March 19, 2003 at 07:43:45 (EST) i have a daughter 14 with cp, any one has a van with a lift .please moderately price, i myself has a knee injury.
    help me please.

    junieb58@aol.com

    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!
    BGDFlores@aol.com

    67. Special Child: Disorder Zone Archives - Arthrogryposis Multiplex Congenita
    Arthrogryposis Multiplex congenita (AMC) is a musculoskeletal disorder characterizedby the presence of However, the most common form of AMC is amyoplasia.
    http://www.specialchild.com/archives/dz-036.html
    Disorder Zone
    Archives Arthrogryposis Multiplex Congenita
    Dylan Brown
    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.

    68. 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
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    69. Arthrogryposis Multiplex Congenita Distal Type II Associated With Facial Abnorma
    A case of arthrogryposis multiplex congenita distal type II associated with facial Theclassical form (type I), called amyoplasia (7), is always sporadic.
    http://www.medinet.lk/journals/CMJ/2001/december/arthrogryposis.htm
    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.

    70. 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
    Vol. 21, No. 16 September 1, 1999 Help for Patients with Arthrogryposis
    Straight Talk About Curved Joints
    by RONDA WENDLER
    Shriners Hospital for Children
    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?

    71. 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
    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.

    72. 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

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    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

    73. 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
    Case Reports
    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
    A case of arthrogryposis multiplex congenita distal type ri 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. 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

    74. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
    syndrome Alzheimer disease, familial Amaurosis congenita of Leber and conjunctivamental retardation Amylopectinosis amyoplasia amyoplasia mandibulofacial
    http://www.orpha.net/Pat/GBA.html
    List of diseases starting by A
    Aagenaes syndrome

    Aarskog like syndrome

    Aarskog ose pande syndrome

    Aarskog syndrome
    ...
    Azoospermia sinopulmonary infections

    75. 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
    ARTHROGRYPOSIS MULTIPLEX CONGENITA (AMC)
  • Definition Epidemiology Pathophysiology Etiology ... Reference Page
  • Definition
    AMC is a nonprogressive congenital neuromuscular syndrome characterized by severe joint contractures, muscle weakness, and fibrosis.
    Epidemiology
    AMC occurs in 1 out of every 3000 live births. Amyoplasia, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form (43%).
    Pathophysiology
    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.
    Etiology
    Several factors are implicated in AMC including hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and/or connective tissue developmental abnormalities.
    Clinical Manifestations
    The primary joints involved (in order of decreasing prevalence) include the foot, hip, wrist, knee, elbow, and shoulder. AMC is typically symmetrical and

    76. 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

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    Health Professionals General Public Students ...
    Advertise Your Product Here
    Neuromusclar 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
    Friedreich's Ataxia 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

    77. 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

    Front
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    CONTRACTURES
    Contractures with neuromuscular disorders
    Arthrogryposis

    Bethlem Myopathy

    Congenital muscular dystrophy
    ...
    Scleroatonic muscular dystrophy (Ullrich)

    Spinal Muscular Atrophy
    5q-linked Congenital

    X-linked Infantile

    Tel Hashomer camptodactyly

    Williams-Beuren syndrome
    Contractures with myopathy or other neuromuscular disease

    78. 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
    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. Smith’s 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.

    79. Rare Diseases List - Office Of Rare Diseases
    Amylopectinosis. amyoplasia. amyoplasia mandibulofacial dysostosis. Amyotoniacongenita. Amyotrophic lateral sclerosis. Anablephobia. Anaplastic thyroid cancer.
    http://ord.aspensys.com/diseases.asp
    Office of Rare Diseases
    Rare Diseases List
    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

    80. 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

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