Arthrogryposis (IPA pronunciation: /ˌar.θro.graɪ'po.sɪs/), also known as Arthrogryposis Multiplex Congenita^[1][2](AMC)^{[3][4][5][6][7]} is a rare^[1][5][8][7] prenatal^[9][3], congenital^{[3][1][9][5][8][6][7]} muscle disorder that causes multiple joint contractures and is characterized by muscle weakness and fibrosis. It is a non-progressive disease.^[5][10] The disease derives its name from Greek literally meaning 'curved or hooked joints'.^[8][1][3] The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... IPA may refer to: The International Phonetic Alphabet or India Pale Ale ... Prenatal means before birth (is widely used in biology). ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ... A top-down view of skeletal muscle Muscle (from Latin musculus little mouse [1]) is contractile tissue of the body and is derived from the mesodermal layer of embryonic germ cells. ... A joint is the location at which two or more bones make contact. ... Contracture can refer to: Dupuytrens contracture Volkmanns contracture Capsular contracture This is a disambiguation page: a list of articles associated with the same title. ... See also Muscle Atrophy Muscle weakness (or lack of strength) is a direct term for It is the inability to exert force with ones muscles to the degree that would be expected given the individuals general physical fitness. ... Fibrosis is the formation or development of excess fibrous connective tissue in an organ or tissue as a reparative or reactive process, as opposed to formation of fibrous tissue as a normal constituent of an organ or tissue. ...

There are many known subgroups of AMC known all with differing signs, symptoms, causes etc.^[3]. In some cases, few joints may be affected and the range of motion may be nearly normal. In the most common case of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe cases, nearly every joint is involved, including the jaw and back. Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation seen.^[5][1] The hands (med. ... In human anatomy, the wrist is the flexible and narrower connection between the forearm and the hand. ... Elbow redirects here. ... This article is about the body part. ... Bones of the Hip In anatomy, the hip is the bony projection of the femur, known as the greater trochanter, and the overlying muscle and fat. ... For other uses, see Foot (disambiguation). ... For other uses, see Knee (disambiguation). ... Human jaw front view Human jaw left view Human jaw top view The jaw is either of the two opposable structures forming, or near the entrance to, the mouth. ... Look up Back in Wiktionary, the free dictionary. ...

Classification

Some of the different types of AMC include:

• Arthrogryposis multiplex due to muscular dystrophy.^[11][12]
• Arthrogryposis ectodermal dysplasia other anomalies, also known as Cote Adamopoulos Pantelakis syndrome, Trichooculodermovertebral syndrome, TODV syndrome and Alves syndrome.^[13][14]
• Arthrogryposis epileptic seizures migrational brain disorder.^[15]
• Arthrogryposis IUGR thoracic dystrophy,also known as Van Bervliet syndrome.^[16][17]
• Arthrogryposis like disorder, also known as Kuskokwim disease.^[18]
• Arthrogryposis-like hand anomaly and sensorineural deafness.^[19][20]
• Arthrogryposis multiplex congenita CNS calcification.^[21]
• Arthrogryposis multiplex congenita distal (AMCD)^[22], with a large number of synonyms such as Arthrogryposis multiplex congenita, distal, x-linked (AMCX1)^[23][24] and Arthrogryposis spinal muscular atrophy^[25][26][27]
• Gordon Syndrome, also known as Distal Arthrogryposis, Type 2A.^[28]
• Arthrogryposis multiplex congenita, distal type 2B, also known as Freeman-Sheldon syndrome variant.^[29][30]
• Arthrogryposis multiplex congenita neurogenic type (AMCN).^[31] This particular type of AMC has been linked to the AMCN gene on locus 5q35.^[32][33][34] It's mode of inheritence follows the Autosomal recessive patern.^[35]
• Arthrogryposis multiplex congenita pulmonary hypoplasia, also with a large number of synonyms.^[36][37][38]
• Arthrogryposis multiplex congenita whistling face, also known as Illum syndrome.^{[39][40][41][42]}
• Arthrogryposis multiplex congenita, distal type 1 (AMCD1).^[43]
• Arthrogryposis ophthalmoplegia retinopathy, also known as Oculomelic amyoplasia.^[44][45][46]
• Arthrogryposis renal dysfunction cholestasis syndrome, also known as ARC Syndrome.^[47][48]

Muscular Dystrophy is a genetic condition that describes over 20 genetic and hereditary muscle diseases. ... Michael Berryman. ... The word locus (plural loci) is Latin for place: In biology and evolutionary computation, a locus is the position of a gene (or other significant sequence) on a chromosome. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...

Signs and symptoms

There is a whole plethora of signs and symptoms for this group of diseases.^[4] Some of the more common signs and symptoms are associated with the shoulder (internal rotation deformity), elbow (extension and pronation deformity), wrist (volar and ulnar deformity), hand (fingers in fixed flexion and thumb-in-palm deformity), hip (flexed, abducted and externally rotated, often dislocated), knee (flexion deformity) and foot (clubfoot deformity).^[8] Complications may include scoliosis, lung hypoplasia leading to respiratory problems, growth retardation, midfacial hemangioma, facial and jaw deformities, respiratory problems, and abdominal hernias. Cognition and speech are usually normal.^[5] Talipes equinovarus, otherwise known as clubfoot, is a congenital disorder where the foot is turned inward (inversion) and in plantar flexion. ... The term Delayed milestone (or developmental delays) is used to describe the condition where a child does not reach one of these stages at the expected age. ...

Causes

The cause as such, is unknown^[7] though there have been several suggestions and factors suggested to play a role in AMC. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities. ^[5][6] In general, the causes can be classified into extrinsic and intrinsic factors. This article or section does not cite any references or sources. ...

Extrinsic

• There is insufficient room in the uterus for normal movement. For example, fetal crowding; the mother may lack a normal amount of amniotic fluid or have an abnormally shaped uterus.^[3][9]

The uterus or womb is the major female reproductive organ of most mammals, including humans. ... The amniotic sac is a tough but thin transparent pair of membranes which holds a developing embryo (and later fetus) until shortly before birth. ...

Intrinsic

• Musculoskeletal/Neuromuscular - Muscles do not develop properly (atrophy). In most cases, the specific cause for muscular atrophy cannot be identified. Suspected causes include muscle diseases (for example, congenital muscular dystrophies), maternal fever during pregnancy, and viruses, which may damage cells that transmit nerve impulses to the muscles.
• Neurological - Central nervous system and spinal cord are malformed. In these cases, a wide range of other conditions usually accompanies arthrogryposis. ^[6]
• Connective Tissue - Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.^[3][9]

Research has shown that anything that prevents normal joint movement before birth can result in joint contractures. The joint itself may be normal. However, when a joint is not moved for a period of time, extra connective tissue tends to grow around it, fixing it in position. Lack of joint 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. (This same kind of problem can develop after birth in joints that are immobilized for long periods of time in casts.) Atrophy is the partial or complete wasting away of a part of the body. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ... Mother with her child (Sculpture) A mother is typically the biological or social female parent of a child or offspring while the male parent is the father. ... An analogue medical thermometer showing the temperature of 38. ... A pregnant woman near the end of her term Pregnancy is the carrying of one or more embryos or fetuses by female mammals, including humans, inside their bodies. ... Groups I: dsDNA viruses II: ssDNA viruses III: dsRNA viruses IV: (+)ssRNA viruses V: (-)ssRNA viruses VI: ssRNA-RT viruses VII: dsDNA-RT viruses A virus (from the Latin noun virus, meaning toxin or poison) is a microscopic particle (ranging in size from 20 - 300 nm) that can infect the... Drawing of the structure of cork as it appeared under the microscope to Robert Hook from Micrographia which is the origin of the word cell. POOP Cells in culture, stained for keratin (red) and DNA (green). ... Schematic of an electrophysiological recording of an action potential showing the various phases which occur as the wave passes a point on a cell membrane. ... A diagram showing the CNS: 1. ... The Spinal cord nested in the vertebral column. ... Connective tissue is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue. ... A tendon (or sinew) is a tough band of fibrous connective tissue that connects muscle to bone and is built to withstand tension. ...

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. ^[49]

In most cases, arthrogryposis is not a genetic condition and does not occur more than once in a family. In about 30% of the cases, a genetic cause can be identified. The risk of recurrence for these cases varies with the type of genetic disorder.^[4]There is a rare autosomal recessive form of the disease known to exist ^[7] For a non-technical introduction to the topic, please see Introduction to genetics. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...

Diagnosis

To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking Muscle biopsies, blood tests and general clinical findings rule out other disorders and provides evidence for AMC.^[5] Blood tests are laboratory tests done on blood to gain an appreciation of disease states and the function of organs. ...

Treatment

While there is no cure, symptoms and deformities may still be alleviated with various methods due to multiple contractures and weakness. Physical therapy intervention including stretching (may include casting and splinting program of affected joints), strengthening, mobility training, and training in ADL skills are undertaken to improve flexion and range of motion. Since there is a variety of different deformities, individually tailored orthopaedic correction is needed. Orthopedic surgery is usually needed to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction if unilateral hip dislocation occurs.^[5] Physical therapy (or physiotherapy[1]) is the provision of services to people and populations to develop, maintain and restore maximum movement and functional ability throughout the lifespan. ... Casting may be used to create artistic sculptures Casting is a manufacturing process by which a molten material such as metal or plastic is introduced into a mold, allowed to solidify within the mold, and then ejected or broken out to make a fabricated part. ... Orthopedic surgery or orthopedics (BE: orthopaedics) is the branch of surgery concerned with acute, chronic, traumatic and recurrent injuries and other disorders of the locomotor system, its musclular and bone parts. ...

Prognosis

Individuals with AMC require vigorous therapy and surgical intervention. This however depends on severity.^[5] Since AMC is not a progressive disorder though, there are also positive factors as well including normal cognition and speech and a potential for functional mobility leading to a productive and independent lifestyle, adapting to specific situations as required by the individuals particular symptom.^[50]

Epidemiology

AMC is relatively rare occurring in 1 out of every 3,000 live births.^[5][8] Amyoplasia, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form 43%.^[51] The majority of affected individuals survive but a minority die, usually due to respiratory muscle involvement.

References

The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ... The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ... The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ... The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ... The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ... The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ... The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ...

External links

• First-degree Black Belt & Fitness Trainer with disorder by Brian Stone
• Dancer with the disorder
• AMC Support, online forum for patients and their families
• Marty Sheedy's personal web sitehe explains life with arthrogryposis along with his personal style of walking. This may help others provide support and more insight into Arthrogryposis
• E-mail discussion group for adults with amc