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Children with amyoplasia often suffer from internally rotated shoulders, extended elbows, ulnar flexed wrists. The type of displacement of the hips and knees is more variable, and they often have club feet. Most children have symmetrical limb involvement.
About 10% of children with amyoplasia have evidence of vascular compromise including Intestinal atresia, abdominal wall defects, and gastroschisis.
Often, every joint in a patient with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. Every joint in the body, when affected, displays typical signs and symptoms: for example, the shoulder (internal rotation); wrist (volar and ulnar); hand (fingers in fixed flexion and thumb in palm); hip (flexed, abducted and externally rotated, frequently dislocated); elbow (extension and pronation) and foot (clubfoot). Range of motion can be different between joints because of the different deviations. Some types of arthrogryposis like amyoplasia have a symmetrical joint/limb involvement, with normal sensations. The contractures in the joints can result in delayed walking development in the first 5 years, but severity of contractures do not necessarily predict eventual walking ability or inability.
Intelligence is normal to above normal in children with amyoplasia, but it is not known how many of these children have an above normal intelligence, and there is no literature available about the cause of this syndrome. There are a few syndromes like the Freeman-Sheldon and Gordon syndrome, which have craniofacial involvement. The amyoplasia form of arthrogryposis is sometimes accompanied with a midline facial hemangioma.
Arthrogryposis is not a diagnosis but a clinical finding, so this disease is often accompanied with other syndromes or diseases. These other diagnoses could affect any organ in a patient. There are a few slightly more common diagnoses such as pulmonary hypoplasia, cryptorchidism, congenital heart defects, tracheoesophageal fistulas, inguinal hernias, cleft palate, and eye abnormalities.
It is the most common form of arthrogryposis multiplex congenita (AMC), where multiple joint contractures are present at birth. Arthrogryposis is derived from the Greek word meaning "with crooking of joints." It occurs in about one out of every 3,000 live births. There are more than 150 types of AMC. Amyoplasia accounts for 40% of AMC cases.
Some of the different types of AMC include:
- Arthrogryposis multiplex due to muscular dystrophy.
- Arthrogryposis ectodermal dysplasia other anomalies, also known as Cote Adamopoulos Pantelakis syndrome, Trichooculodermovertebral syndrome, syndrome and Alves syndrome.
- Arthrogryposis epileptic seizures migrational brain disorder.
- Arthrogryposis thoracic dystrophy, also known as Van Bervliet syndrome.
- Arthrogryposis like disorder, also known as Kuskokwim disease.
- Arthrogryposis-like hand anomaly and sensorineural deafness.
- Arthrogryposis multiplex congenita calcification.
- Arthrogryposis multiplex congenita distal (), also known as X-linked spinal muscular atrophy type 2
- Gordon Syndrome, also known as Distal Arthrogryposis, Type 2A.
- Arthrogryposis multiplex congenita, distal type 2B, also known as Freeman-Sheldon syndrome variant.
- Arthrogryposis multiplex congenita neurogenic type (). This particular type of AMC has been linked to the gene on locus 5q35. Arthrogryposis multiplex congenita pulmonary hypoplasia, also with a large number of synonyms.
- Arthrogryposis multiplex congenita whistling face, also known as Illum syndrome.
- Arthrogryposis multiplex congenita, distal type 1 ().
- Arthrogryposis ophthalmoplegia retinopathy, also known as Oculomelic amyoplasia.
- Arthrogryposis renal dysfunction cholestasis syndrome, also known as Syndrome.