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Topic: Arthrogryposis multiplex congenita distal

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	Arthrogryposis - distal arthrogryposis
		Arthrogryposis (Arthrogryposis Multiplex Congenita) is a muscle disorder that causes multiple joint contractures at birth.
		Arthrogryposis is relatively rare, occurring in approximately one in 3,000 births.
		Lack of joint arthrogryposis multiplex congenita movement also means that tendons connecting to the joint are not stretched to their normal length; short tendons, in turn, make normal joint movement difficult.
	www.medicalgeo.com /Med-Diseases-Am---As/Arthrogryposis.html (486 words)

	Arthrogryposis Multiplex Congenita
		Arthrogryposis Multiplex Congenita, a rare disorder that is present at birth (congenital), is characterized by reduced mobility of many joints of the body.
		The cause of Arthrogryposis Multiplex Congenita (AMC) is unknown.
		Arthrogryposis Multiplex Congenita, Distal, Type I is an autosomal dominant hereditary disorder charcterized by abnormal postioning of the hands and feet.
	hw.healthdialog.com /kbase/nord/nord211.htm (1416 words)

	Arthrogryposis Multiplex Congenita Information on Healthline
		Arthrogryposis multiplex congenita (AMC) is a term used to describe the presence of two or more (multiplex) joint contractures (arthrogryposis) present at birth (congenita).
		Distal arthrogryposis (DAs) are all characterized by contractures of the fingers and toes.
		Arthropathy-camptodactyly-pericarditis syndrome is characterized by contractures of the elbows, wrists, and fingers; an abnormally elevated generalized stiffness upon waking; arthritis of the hips, shoulders, elbows, and knees; and, inflammation of the membranous sac that protects the heart (pericarditis).
	www.healthline.com /galecontent/arthrogryposis-multiplex-congenita (1156 words)

	Arthrogryposis
		For some years the incidence figure for Arthrogryposis in the UK was given as one in 56,000 births, but more recent data from the registrars of congenital birth defects suggested a higher incidence of 1 in 3000 to 5000 births.
		Arthrogryposis also occurs frequently in conjunction with other serious congenital abnormalities where, sadly, the babies die in the neonatal period.
		Arthrogryposis is described as being a very heterogeneous condition, meaning, one that is diverse in character.
	www.tagonline.org.uk /html/body_arthrogryposis.html (1688 words)

	ARTHROGRYPOSIS MULTIPLEX CONGENITA (Site not responding. Last check: 2007-10-24)
		Arthrogryposis multiplex congenita (AMC) is non-progressive congenital syndrome complex characterized by contracture of several joints in different parts of the body due to varying degrees of fibrosis of the affected muscles, thickening and shortening of periarticular capsular and ligamentous tissue with an intact sensory system and normal intellect.
		The term arthrogryposis (derived from two Greek words curved or hooked joint) is descriptive and not a diagnosis [3] and it is vital to recognize the heterogeneity of this condition.
		Although the term arthrogryposis multiplex congenita, coined by stern in 1923 continues to be the most widely accepted terminology, Swinyard has recently coined a more appropriate term-multiple congenital contractures.
	www.bhj.org /journal/1999_4104_oct99/reviews_731.htm (1426 words)

	Arthrogryposis Multiplex Congenita
		Arthrogryposis multiplex congenita involving both upper extremities may resemble bilateral brachial plexus palsy.
		The characteristics of arthrogryposis multiplex congenita that distinguish it from brachial plexus palsy are: (1) the presence of skin pits at the wrists and (2) the permanent nature of the arm position (Figure 167.1).
		Most neonates with distal arthrogryposis can only be diagnosed by recognizing a constellation of signs leading to the diagnosis of a syndrome.
	pediatricneuro.com /alfonso/pg167.htm (230 words)

	Arthrogryposis Multiplex Congenita, Distal, X-linked
		Arthrogryposis multiplex congenita distal type II associated with...
		Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality...
		Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal...
	www.medicality.org.uk /diseases/arthrogryposis-multiplex-congenita,-distal,-x-linked.php (189 words)

	Avenues: A National Support Group for Arthrogryposis Multiplex Congenita \| Medline Abstracts, Arthrogryposis, 1989-96
		Arthrogryposis multiplex congenita (AMC) is a rare congenital syndrome consisting of two or more joint contractures in different parts of the body.
		The purpose of this paper is to present an infant born to a myasthenic mother, with distal arthrogryposis, severe hypotonia and respiratory distress, unresponsive to administration of pyridostigmine bromide.
		Details are given of a case of a young child with arthrogryposis multiplex congenita, in whom a novel approach was used to allow the safe intra-oral retention of writing implements.
	www.avenuesforamc.com /research/biblio2b.htm (8698 words)

	Medical Dictionary: Arthrogryposis multiplex congenita, distal type 1 - WrongDiagnosis.com
		Arthrogryposis multiplex congenita, distal type 1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Arthrogryposis multiplex congenita, distal type 1, or a subtype of Arthrogryposis multiplex congenita, distal type 1, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Arthrogryposis multiplex congenita, distal type 1:
	www.wrongdiagnosis.com /medical/arthrogryposis_multiplex_congenita_distal_type_1.htm (205 words)

	Avenues: A National Support Group for Arthrogryposis Multiplex Congenita \| Medline Abstracts, Arthrogryposis, 1997-1998
		Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene
		Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy—a new syndrome?
		Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?
	www.avenuesforamc.com /research/titles1a.htm (582 words)

	Arthrogryposis multiplex congenita distal type II associated with facial abnormality
		A case of arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, postaxial poydactyly and Hirschprung's disease is described.
		Arthrogryposis is a syndrome involving multiple persistent joint contractures in the intact skeleton at birth.
		The neonate that we report appeared to be a having a new form of an autosomal recessive syndrome, with the association of polydactyly, Hirschprung's disease and arthrogryposis multiplex congenita distal type II.
	www.medinet.lk /journals/CMJ/2001/december/arthrogryposis.htm (920 words)

	The Arthrogryposis Group -TAG
		We are a support group for people, or families with children, who have the condition Arthrogryposis.
		Arthrogryposis is a name given to a group of conditions that relate to “stiff joints”
		Arthrogryposis, tag, amc, arthrogryposis multiplex congenta, congenita, multiplex congenita, medical, joints, fixed joints, rigid joints, joint contracture, contracture, congenital, birth defects, congenital anomalies, abnormality, abnormalities, muscle, muscle defects, neurological, connective tissue, hereditary, genetics, amyoplasia, distal arthrogryposis, genetic counselling, paediatrician, therapy.
	www.tagonline.org.uk /index.html (139 words)

	Arthrogryposis Multiplex Congenita
		Neonates with congenital muscular dystrophy are hypotonic, weak, and may have distal arthrogryposis.
		Arthrogryposis is more marked in the upper extremities than in the lower extremities.
		Arthrogryposis occurs in a significant number of patients with Schawart-Jampel syndrome.
	pediatricneuro.com /alfonso/pg166.htm (507 words)

	Arthrogryposis Multiplex Congenita: (Amyoplasia) - Wheeless' Textbook of Orthopaedics
		Arthrogryposis Multiplex Congenita: (Amyoplasia) - Wheeless' Textbook of Orthopaedics
		- patients with distal arthrogryposis had the largest improvement in passive wrist motion, were more functionally
		- Equinovarus deformity in arthrogryposis and myelomeningocele: evaluation of primary talectomy.
	www.wheelessonline.com /ortho/arthrogryposis_multiplex_congenita_amyoplasia (774 words)

	eMedicine - Arthrogryposis : Article by Harold Chen, MD, MS, FAAP, FACMG (Site not responding. Last check: 2007-10-24)
		Arthrogryposis epidemics have been reported, but whether these are due to chance occurrence, environmental factors, or infectious agents is unclear.
		Type IIC is characterized by distal contractures notably affecting the feet with equinovarus deformity, cleft lip or palate, and lack of short stature.
		Dysgenesis of the CNS is the second most common neurogenic abnormality in arthrogryposis (23%), with disorganization of and decrease in neurons of the cortex and motor nuclei of the brainstem and spinal cord.
	www.emedicine.com /PED/topic142.htm (6095 words)

	Gordon Syndrome
		Gordon Syndrome is characterized by stiffness and impaired mobility of certain joints of the arms and legs (distal arthrogryposis) including the knees, elbows, wrists, and/or ankles.
		Distal Arthrogryposis Multiplex Congenita, Type II is a very rare inherited disorder that is apparent at birth and is characterized by stiffness and/or impaired mobility of certain joints (contractures) and deformities of bones of the hands and/or feet.
		Distal Arthrogryposis Multiplex Congenita, Type II is thought to be inherited as an autosomal dominant genetic trait.
	hw.healthdialog.com /kbase/nord/nord507.htm (1772 words)

	Arthrogryposis multiplex congenita and retinopathy — case report (Site not responding. Last check: 2007-10-24)
		Background: Arthrogryposis multiplex congenita is a nonprogressive condition, which is characterized by congenital contracture of several joints on different body areas and may also occur as a manifestation of other syndromes.
		Patient/Results: A 12-year-old girl with distal arthrogryposis multiplex congenita presented with progressive visual loss since one year.
		Discussion: The girl demonstrated arthrogryposis and retinopathy, other syndromal manifestations or cerebral retardation could not be seen.
	www.dog.org /2000/e-abstract_2000/274.html (204 words)

	Association of Arthrogryposis Multiplex Congenita with Maternal Antibodies Inhibiting Fetal Acetylcholine Receptor ...
		Newsom-Davis (1995) Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen.
		Arthrogryposis multiplex congenita associated with maternal antibodies to fetal acetylcholine receptor.
		Acetylcholine receptor {{delta}} subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita
	www.jci.org /cgi/content/full/98/10/2358 (3338 words)

	Survival Motor Neuron Gene Deletion in the Arthrogryposis Multiplex Congenita-Spinal Muscular Atrophy Association -- ...
		The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA).
		Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA.
		One of the exclusion criteria was in fact arthrogryposis with severe and generalized contractures.
	www.jci.org /cgi/content/full/98/5/1130 (1577 words)

	Arthrogryposis Multiplex Congenita
		Distal type affects the distal portions of the extremities.
		Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal arthrogryposis are recognized: 1.
		"Arthrogryposis" (Arthrogryposis Multiplex Congenita) is a term describing the presence of multiple joint contractures at birth.
	ibis-birthdefects.org /start/arth.htm (536 words)

	Medical Dictionary: Arthrogryposis multiplex congenita, distal, x-linked - WrongDiagnosis.com
		Arthrogryposis multiplex congenita, distal, x-linked is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Arthrogryposis multiplex congenita, distal, x-linked, or a subtype of Arthrogryposis multiplex congenita, distal, x-linked, affects less than 200,000 people in the US population.
		They list Arthrogryposis multiplex congenita, distal, x-linked as a "rare disease".
	www.wrongdiagnosis.com /medical/arthrogryposis_multiplex_congenita_distal_x_linked.htm (213 words)

	The Arc of Virginia Resources- Specific Diagnosis Card Catalog- Arthrogryposis Multiplex Congenita
		Avenues is a national support group that provides education and networking for parents and medical professionals concerned with Arthrogryposis.
		This is a mailing list for adults with arthrogryposis to come together and communicate with others affected with amc.
		Teens and parents of children with amc are invited to join, however, discussions may reach a mature level.
	www.arcfip.org /lib_arto.htm (294 words)

	Living in Grace - Arthrogryposis
		Arthrogryposis is not actually a disease, but a description of the symptoms that occur about 1 in 10,000 births.
		The lack of movement also causes the joints to be very stiff, and the pressure of the womb bearing down on these precious children often causes the limbs to be distorted in appearance- the most common being club feet, dislocated hips, and cupped hands.
		From our perspective we would strongly recommend that any parent of a child with suspected Arthrogryposis would contact Seattle Children’s Hospital for their Arthrogryposis clinic (Dr. Kit Song); or Dr. Judith Hall at Children’s Hospital in Vancouver British Columbia.
	www.livingingrace.com /Arthrogryposis.htm (277 words)

	Gordon Syndrome - SJMMC, Ann Arbor, Michigan MI
		Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes.
		These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles.
		These joints tend to be permanently fixed in a bent or flexed position (contractures).
	www.sjmercyhealth.org /13887.cfm (471 words)

	AMCD2B - arthrogryposis multiplex congenita, distal, type 2B (Site not responding. Last check: 2007-10-24)
		We suggest that DA2B is partly responsible for the clinical variability observed in Freeman-Sheldon syndrome.
		Consequently, we label this disorder distal arthrogryposis type 2B (DA2B).
		These synonyms are used for gene AMCD2B (arthrogryposis multiplex congenita, distal, type 2B): FSSV, Distalarthrogryposis, type 2B (Freeman-Sheldon syndrome variant), DA2B.
	www.ihop-net.org /UniPub/iHOP/gi/93553.html (81 words)

	Contractures
		Arthrogryposis with oculomotor limitation and electroretinal abnormalities (DA 5)
		Skeletal: Arachnodactyly; Distal arthrogryposis; Adducted thumbs and clubfeet
		Prenatal growth retardation; Pelvic hypoplasia; Arthrogryposis in lower limbs
	www.neuro.wustl.edu /neuromuscular/msys/contract.html (829 words)

	amcsupport.org - Support Group For Arthrogryposis Multiplex Congenita
		Our group welcomes moms, dads, friends and families of children with Arthrogryposis Multiplex Congenita.
		We welcome everyone to discuss their experiences with their child to help, comfort and support all those who have questions, fears, or concerns about AMC.
		All proceeds will go to the Arthrogryposis Multiplex Congenita Foundation.
	www.amcsupport.org (233 words)

	Nemours.org - Arthrogryposis Program - Alfred I. duPont Hospital for Children, Wilmington (Site not responding. Last check: 2007-10-24)
		A service of the Department of Orthopedics, the Arthrogryposis Program provides comprehensive treatment for children with arthrogryposis, a congenital condition that affects the joints and muscles and impairs children's ability to use their shoulders, wrists, fingers, and lower extremities.
		Experts in orthopedic surgery, occupational therapy, and physical therapy provide evaluation, treatment, and long-term management for patients from birth through age 18.
		The Arthrogryposis Program answers patient and parent questions, and refers patients and parents to outside information sources such as:
	www.nemours.org /internet?url=no/aidhc/svcs/div2019.html (166 words)

	UniProtKB/Swiss-Prot entry P48788 [TNNI2_HUMAN] Troponin I, fast skeletal muscle
		Sung S.S. Brassington A.-M.E. Grannatt K. Rutherford A. Whitby F.G. Krakowiak P.A. Jorde L.B. Carey J.C. Bamshad M. "Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.";
		: Defects in TNNI2 are a cause of distal arthrogryposis type 2B (DA2B) [MIM:601680]; also known as arthrogryposis multiplex congenita, distal, type 2B (AMCD2B).
		DA2B is a form of inherited multiple congenital contractures.
	www.expasy.org /uniprot/P48788 (367 words)

	GeneCard for TNNI2 (Site not responding. Last check: 2007-10-24)
		Defects in TNNI2 are the cause of distal arthrogryposis type 2B (DA2B) [MIM:601680]; also
		known as arthrogryposis multiplex congenita, distal, type 2B (AMCD2B).
		Mullen A.J. and Barton P.J.R. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
	www.genecards.org /cgi-bin/carddisp.pl?gene=TNNI2 (730 words)

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