Arthrogryposis: Difference between revisions
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[[Arthrogryposis medical therapy|Medical therapy]] | [[Arthrogryposis surgery|Surgical options]] | [[Arthrogryposisprevention|Prevention]] | [[Arthrogryposis cost-effectiveness of therapy|Financial costs]]| [[Arthrogryposis future or investigational therapies|Future therapies]] | [[Arthrogryposis medical therapy|Medical therapy]] | [[Arthrogryposis surgery|Surgical options]] | [[Arthrogryposisprevention|Prevention]] | [[Arthrogryposis cost-effectiveness of therapy|Financial costs]]| [[Arthrogryposis future or investigational therapies|Future therapies]] | ||
==Causes== | ==Causes== | ||
The cause as such, is unknown 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. <ref name=DPO /><ref name=Alfonso /> In general, the causes can be classified into extrinsic and intrinsic factors. | The cause as such, is unknown 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. <ref name=DPO /><ref name=Alfonso /> In general, the causes can be classified into extrinsic and intrinsic factors. | ||
Revision as of 16:51, 21 August 2012
| Arthrogryposis | |
| ICD-10 | Q74.3 |
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| ICD-9 | 728.3, 728.3, 754.89 |
| OMIM | 108110 108120 208100 301830 601701 208200 108200 301830 208155 601680 108145 208085 |
| DiseasesDB | 31688 Template:DiseasesDB2 |
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Arthrogryposis Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Arthrogryposis On the Web |
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American Roentgen Ray Society Images of Arthrogryposis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S
Synonyms and keywords: Arthrogryposis Multiplex Congenita, AMC.
Overview
Classification
Pathophysiology
Causes
Differential Diagnosis
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination |Laboratory tests | ECG | EEG | Chest X Ray |CT | MRI |Echocardiography or Ultrasound |Other imaging studies | Alternative diagnostics
Treatment
Medical therapy | Surgical options | Prevention | Financial costs| Future therapies
Causes
The cause as such, is unknown 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. [1][2] In general, the causes can be classified into extrinsic and intrinsic factors.
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][4]
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. [2]
- 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][4]
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.)
The principal 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. [5]
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.[6]There is a rare autosomal recessive form of the disease known to exist.
Epidemiology and Demographics
AMC is relatively rare occurring in 1 out of every 3,000 live births.[1][7] Amyoplasia, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form 43%.[8] The majority of affected individuals survive but a minority die, usually due to respiratory muscle involvement.
Natural history, Complications and Prognosis
Complications
Complications may include scoliosis, lung hypoplasia leading to respiratory problems, growth retardation, midfacial hemangioma, facial and jaw deformities, respiratory problems, and abdominal hernias.
Prognosis
Individuals with AMC require vigorous therapy and surgical intervention. This however depends on severity.[1] 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.[9]
Diagnosis
There is a whole plethora of signs and symptoms for this group of diseases.[6]
Cognition and speech are usually normal.[1]
To date, no prenatal diagnostic tools are available to test for the condition. Diagnostic tools are only used to rule out other causes. This is done by undertaking muscle biopsies, blood tests and general clinical findings which rule out other disorders and provides evidence for AMC.[1]
Physical Examination
Some of the more common physical examination findings are
- 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).[7]
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, are undertaken to improve flexion and range of motion.
- Occupational therapy interventions can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of a chronic condition.
- 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.[1]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Invalid
<ref>tag; no text was provided for refs namedDPO - ↑ 2.0 2.1 Invalid
<ref>tag; no text was provided for refs namedAlfonso - ↑ 3.0 3.1 Invalid
<ref>tag; no text was provided for refs namedMED1 - ↑ 4.0 4.1 Invalid
<ref>tag; no text was provided for refs namedMED2 - ↑ Berkow R ed. The Merck Manual of Diagnosis and Therapy. 16th ed. . Rathway, NJ: Merck Research Laboratories;1992:2075
- ↑ 6.0 6.1 Invalid
<ref>tag; no text was provided for refs namedNLM - ↑ 7.0 7.1 Invalid
<ref>tag; no text was provided for refs namedOrtho - ↑ 16. Hall JG. Arthrogryposis Multiplex Congenita: Etiology, Genetics, Classification, Diagnostic Approach, and General Aspects. Journal of Pediatric Orthopedics. 1997;6:159-166.
- ↑ Hall JG. Amyoplasia, the most common type of Arthrogryposis: the potential for good outcome. Pediatrics. 1996;97:225-231.
External links
- AMC Support, online forum for patients and their families
- E-mail discussion group for adults with amc