AMYOPLASIA CONGENITA PDF

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis.

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This is a rare disorder occurring in 1 out of every 3, live births. The incidence of true amyoplasia occurs in 1 out of every 10, live births. Arthrogryposis, also called arthrogryposis multiplex congenita AMC , involves a variety of non-progressive conditions that are characterized by multiple joint contractures stiffness and involves muscle weakness found throughout the body at birth.

This disorder should be considered a symptom complex or a descriptive term rather than a disease and an underlying cause should be sought when possible. The most common type of arthrogryposis is called amyoplasia in which the hands, wrists, elbows, shoulders, hips, feet and knees are affected. In more severe types, every joint can be affected including the jaw and spine. The main point to remember is that AMC is not a progressive disorder. Typically these children have normal speech and learning capabilities and with proper care, vigorous therapy and in some cases, surgical interventions, the potential for them to lead productive, rewarding, independent lives is excellent.

During the early growth phase, joint development is almost always normal. When there is a lack of fetal movement, this can cause extra connective tissue to develop causing a stiff, immobile joint. The longer the immobility, the worse the contracture. Most individuals do not have an associated genetic reason for arthrogryposis. This does not usually occur more than once in a family, but the risk of recurrence varies with the type of genetic disorder. Almost all cases of the most common amyoplasia type are sporadic without a genetic link.

An autosomal dominant transmission has been noted, most notably in type I distal arthrogryposis. There is a rare X-linked recessive type as well as autosomal recessive inherited variety. There are rare cases of mitochondrial inheritance reported as well. There is no prenatal diagnostic tool to test for this condition. During a routine ultrasound, abnormal limbs may be noted, but no definitive cause can be ascertained until further tests can be run. They are usually referred to one of our orthopedic centers within weeks of birth to perform a full history and physical exam and to determine if any early testing or treatments need initiated.

They will need to see the genetics team, therapy teams and other specialties depending on their individual issues. Contact our Orthopedics department at The classic findings of the amyoplasia variety of arthrogryposis present with well-recognized musculoskeletal abnormalities:. Skip to Content. Urgent Care. In This Section.

Conditions We Treat Arthrogryposis. Arthrogryposis This is a rare disorder occurring in 1 out of every 3, live births. Seeking Help. What is Arthrogryposis? No racial tendency is present. Males are more affected in X-linked recessive disorders; otherwise, females and males are equally affected.

Arthrogryposis is detected at birth or in utero using ultrasound. As many as syndromes have similar features with arthrogryposis. The majority of individuals thrive with an average or above average intellect. The life span of affected people depends on the severity of the syndrome and associated malformations, but is often normal. Prognosis The main point to remember is that AMC is not a progressive disorder. Lee Pearson-British time gold medal winner at the Paralympic games in dressage.

Mike Begum-A competitive fighting game player. Sunny Taylor-An American painter and activist. Extrinsic outside factors : Insufficient room in the uterus; low amniotic fluid or abnormally shaped uterus; maternal infection, drugs, trauma as well as other causes.

Intrinsic within the child : Neurological malformed spinal cord or areas within the brain; Connective tissue disorders tendons, ligaments, bones or joint lining. Genetics Most individuals do not have an associated genetic reason for arthrogryposis. Diagnosing Arthrogryposis There is no prenatal diagnostic tool to test for this condition. Blood work is typical, especially genetic testing. The department of genetics will also see the child and explain the work-up.

Muscle biopsies are frequently done to determine a cause or rule out other conditions. At times, an electromyography EMG , will be performed to make a distinction between myopathic and neurogenic arthrogryposis.

A full history and general exam of the clinical findings are the mainstay of diagnosis. There are a variety of orthopedic surgery options that may be needed for a child with arthrogryposis. Some are simple, such as an achilles tendon release, some are moderate, including elbow and knee surgeries and some are very involved, including limb lengthening and spinal surgery.

Each patient will have an individualized orthopedic exam which may include x-rays , and any surgical options will be discussed with care-givers so that a well-informed decision can be made regarding any proposed surgery.

Clinical Findings The classic findings of the amyoplasia variety of arthrogryposis present with well-recognized musculoskeletal abnormalities: Bright-eyed intelligent children; normal to above average cognition.

Many have a mid-line forehead cutaneous hemangioma. The arms and legs are often thin and atrophic and the joints lack flexion creases. Typically all four extremities are involved, but there are some with just upper or lower involvement. Sensation is usually normal. Babies are often in breech position, most likely due to an inability to kick and rotate into proper position.

Many times if the diagnosis has been made prenatally, these children are delivered by cesarean section. Distal arthrogryposis syndromes involve the more peripheral joints i. Other, more uncommon problems include scoliosis, respiratory issues, facial and jaw variations and abdominal hernias.

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Arthrogryposis

Amyoplasia congenita is a diagnostic subgroup of children with arthrogryposis multiplex congenita AMC. AMC is a relatively rare syndrome characterized by multiple joint contractures at birth. Amyoplasia congenita is the most common type of this syndrome with an occurrence rate of 1 in 10, live births, and mainly refers to the disorders with limb involvement. In this report, the author presents a premature baby with amyoplasia congenita, whose hips showed flexion, abduction, and external rotation contractures. The knees showed fixed extension contractures, so that his lower extremities were cylindrical with absent skin creases at birth. The syndrome arthrogryposis multiplex congenita AMC is characterized by the presence of multiple contractures in several body areas present at birth. Here the author describes a case of amyoplasia congenita involving only the lower extremities in a premature baby.

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Amyoplasia Congenita of the Lower Extremity: Report in a Premature Baby

If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. Rare congenital disorder constituting about one third of cases of Arthrogryposis Multiplex Congenita characterized by multiple contractures of joints. Congenital disorder that may result from an intrauterine vascular accident affecting the fetal spinal cord. Sporadic cases. Incidence is approximately , live births.

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Amyoplasia

Amyoplasia congenita is a syndrome characterized by multiple specific congenital joint contractures, associated with substitution of muscular tissue by fibrosis and adipose tissue. There may be a higher prevalence with twin pregnancies 1. The term a-myo-plasia essentially derives from the Latin meaning no-muscle-development. Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys.

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