ARTROGRIPOZIS MULTIPLE CONGENITA PDF

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.

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Arthrogryposis multiplex congenita refers to a variety of conditions that involve congenital limitation of joint movement. Intelligence is typically normal except when the arthrogryposis is caused by a disorder or syndrome that also affects intelligence.

Diagnosis is clinical. Treatment includes joint manipulation and casting and sometimes surgery. Amyoplasia classic arthrogryposis : Multiple symmetric contractures occur in the limbs. Affected muscles are hypoplastic and have fibrous and fatty degeneration. Usually intelligence is normal. Nearly all cases are sporadic. Distal arthrogryposis: The hands and feet are involved, but the large joints are typically spared.

Distal arthrogryposes are a heterogeneous group of disorders, many of which are associated with a specific gene defect in one of a number of genes that encode components of the contractile apparatus. Many distal arthrogryposes are transmitted as autosomal dominant disorders, but X-linked mutations are known. Causes may involve. Maternal disorders eg, multiple sclerosis , impaired uterine vascularity.

Genetic disorders affecting the fetus eg, neuropathies; myopathies , including muscular dystrophies ; connective tissue abnormalities ; impaired fetal vascularity; anterior horn cell disease. More than 35 specific genetic disorders eg, spinal muscular atrophy type I, trisomy 18 have been linked to AMC. Deformities are prominent at birth. AMC is not progressive; however, the condition that causes it eg, muscular dystrophy may be.

Affected joints are contracted in flexion or extension. In the classic manifestations of AMC, shoulders are sloped, adducted, and internally rotated, the elbows are extended, and the wrists and digits are flexed.

Hips may be dislocated and are usually slightly flexed. Knees are extended; feet are often in the equinovarus position. Leg muscles are usually hypoplastic, and limbs tend to be tubular and featureless.

Soft-tissue webbing sometimes occurs over ventral aspects of the flexed joints. The spine may be scoliotic. Except for slenderness of the long bones, the skeleton appears normal on x-rays. Physical disabilities may be severe. As noted, some children may have primary central nervous system dysfunction, but intelligence is usually unimpaired. Endotracheal intubation during surgery may be difficult because children have small immobile jaws.

Other abnormalities that rarely accompany arthrogryposis include microcephaly, cleft palate, cryptorchidism, and cardiac and urinary tract abnormalities; these findings raise suspicion for an underlying chromosomal defect or genetic syndrome.

When available, a clinical geneticist should coordinate the assessment and management; typically, practitioners from many specialties are involved. Evaluation should also include a thorough assessment for associated physical, chromosomal, and genetic abnormalities. Specific disorders to be sought include Freeman-Sheldon syndrome, Holt-Oram syndrome, Larsen syndrome, Miller syndrome, multiple pterygium syndrome, and DiGeorge syndrome 22q11 deletion syndrome.

Testing typically starts with a chromosomal microarray analysis followed by specific gene tests that are done individually or as a standard panel by many genetic laboratories 1. Electromyography and muscle biopsy are useful to diagnose neuropathic and myopathic disorders. In classic AMC, muscle biopsy typically shows amyoplasia, with fatty and fibrous replacement of tissues.

Whole exome sequencing should be considered when other tests do not yield a definitive diagnosis, especially in familial cases 2. Orphanet J Rare Dis , Mol Genet Genomic Med 3 4 —, Early orthopedic and physical therapy evaluations are indicated. Joint manipulation and casting during the first few months of life may produce considerable improvement. Orthotics may help. Surgery may be needed later to align the angle of ankylosis, but mobility is rarely enhanced. Muscle transfers eg, surgically moving the triceps so that it can flex the elbow may improve function.

Many children do remarkably well; two thirds are ambulatory after treatment. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world. The Manual was first published in as a service to the community.

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Symptoms and Signs. Diagnosis references. Congenital Craniofacial and Musculoskeletal Abnormalities. Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities. Test your knowledge. Which of the following imaging studies is most appropriate for initial diagnosis of hypertrophic pyloric stenosis?

More Content. Click here for Patient Education. There are two major types of arthrogryposis multiplex congenita AMC :. Clinical evaluation. Joint manipulation and casting. Was This Page Helpful? Yes No. Congenital Knee Dislocation. Cystic Fibrosis: Defective Chloride Transport. Add to Any Platform.

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Arthrogryposis multiplex congenita

Arthrogryposis, or multiple congenital contractures, is the occurrence of joint contractures of diverse etiology in the prenatal period. Arthrogryposis may result from neurologial deficit, neuromuscular disorders, connective tissue abnormalities, amniotic bands, or fetal crowding. The causes of arthrogryposis may be apparently nonhereditary neuropathic, for example or hereditary myopathic, for example. Ultrasound diagnosis depends on the observation of scant or absent motion of fetal extremities as well as abnormalities in the position of joint contractures. Prognosis depends on the specific etiology of the contractures. The incidence of abnormal joint contractures and other accompanying malformations in eight patients observed with three-dimensional ultrasonography are described. ISSN:

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Arthrogryposis Multiplex Congenita

Arthrogryposis multiplex congenita AMC , or simply arthrogryposis , describes congenital joint contracture in two or more areas of the body. Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. AMC has been divided into three groups: amyoplasia , distal arthrogryposis, and syndromic. Amyoplasia is characterized by severe joint contractures and muscle weakness. Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group. Intelligence is normal to above normal in children with amyoplasia, [4] 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.

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Arthrogryposis

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