Arthrogryposis Multiplex Congenita

Multiple congenital contractures

The arthrogryposis multiplex congenita involves a variety of conditions that represent a congenital impairment of joint motion. The intelligence is relatively normal, unless the arthrogryposis is caused by a disorder or a syndrome also affects intelligence.

Arthrogryposis is no specific diagnosis, but a clinical finding congenital contractures; these can be present at> 300 different diseases. The prevalence varies in different studies between 1 / 3,000 to 1 / 12,000 live births. The perinatal mortality rate for some of the underlying conditions is up to 32%, so that the position of a specific diagnosis is important for prognosis and genetic counseling.

The arthrogryposis multiplex congenita involves a variety of conditions that represent a congenital impairment of joint motion. The intelligence is relatively normal, unless the arthrogryposis is caused by a disorder or a syndrome also affects intelligence. Arthrogryposis is no specific diagnosis, but a clinical finding congenital contractures; these can be present at> 300 different diseases. The prevalence varies in different studies between 1 / 3,000 to 1 / 12,000 live births. The perinatal mortality rate for some of the underlying conditions is up to 32%, so that the position of a specific diagnosis is important for prognosis and genetic counseling. There are two main types of arthrogryposis multiplex congenita (AMC): Amyoplasie (classic arthrogryposis): Multiple symmetrical contractures occur in the limbs. The affected muscles are hypoplastic and have a fibrous and fatty degeneration. Intelligence is usually normal. Approximately 10% of patients have celiac anomalies (eg. B. Gastroschisis, Darmatresie) due to a lack of muscle formation. Fastz all cases occur sporadically. Distal Arthrogryposis: The hands and feet are involved, but the large joints are typically excluded. Cases of distal arthrogryposis are a heterogeneous group of diseases, many of which are associated with a specific genetic defect in a different number of genes encoding components of the contractile apparatus. Many cases of distal arthrogryposis is transmitted as an autosomal dominant disease, but there are also X-linked mutations known. Etiology Every circumstance which impedes the movements in utero for> 3 weeks can lead to AMC. Among the causes may include: Physical Disabilities (eg due to uterine malformations, multiple pregnancies or Oligohydramnien.), Fetal akinesia / hypokinesia syndrome (Pena-Shokeir syndrome) caused, often with pulmonary hypoplasia associated maternal diseases (eg. B. multiple sclerosis, dysfunctional uterine bleeding) genetic diseases that affect the fetus (e.g., neuropathy,. myopathies, including muscular dystrophy, connective tissue abnormalities; impaired fetal circulation;. anterior horn cell disease) Over 35 specific genetic disorders (e.g., spinal muscular atrophy type I, trisomy 18) have been associated with AMC. Symptoms and signs The bad posture are already visible at birth. AMC is not progressive, but the causes (eg. As muscular dystrophy) can be. The affected joints are contracted in flexion or extension. In the classic manifestations of AMC shoulders adducted and internally rotated, elbows outstretched and wrists and hips are flexed. The hips may be dislocated and are usually slightly bent. The knees are straight, feet often in a equinovarus. The leg muscles are usually hypoplastic, and the extremities tend to be tubular and without structure. Soft tissue bands can sometimes occur on the ventral side of the bent joints. The spine may be skoliotisch, the skeleton is – apart from the narrow long bones – radiographically normal. The physical disability can be hard. As mentioned earlier, some children may have a primary CNS dysfunction, but the intelligence is not affected in the rule. Arthrogryposis multiplex congenita © Springer Science + Business Media var model = {thumbnailUrl: ‘/-/media/manual/professional/images/552-arthrogryposis-multiplex-congenita-s146-springer-high_de.jpg?la=de&thn=0&mw=350 ‘imageUrl:’ /-/media/manual/professional/images/552-arthrogryposis-multiplex-congenita-s146-springer-high_de.jpg?la=de&thn=0 ‘, title:’ arthrogryposis multiplex congenita ‘description’ u003Ca id = “v37897576 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eDieses photo shows the typical appearance of a child with arthrogryposis of the four Limbs. Note adduction and internal rotation of the shoulders

Health Life Media Team

Leave a Reply