Arthrogryposis
| 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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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
Epidemiology and Demographics
AMC is relatively rare occurring in 1 out of every 3,000 live births.[1][2] Amyoplasia, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form 43%.[3] 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.[4]
Diagnosis
There is a whole plethora of signs and symptoms for this group of diseases.[5]
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).[2]
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 Invalid
<ref>tag; no text was provided for refs namedDPO - ↑ 2.0 2.1 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.
- ↑ Invalid
<ref>tag; no text was provided for refs namedNLM
External links
- AMC Support, online forum for patients and their families
- E-mail discussion group for adults with amc