Congenital arthrogryposis multiplex ( AMC ), or just arthrogryposis , describes the congenital joint contracture in two or more areas of the body. It comes from the Greek name, literally means "curved joint" ( arthron , "shared"; < i> gr> p sis , final Latin form from Ancient Greek gr> psi sis , "hooking"). Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue that causes muscle shortening, and therefore can not perform active and flexed extension of the affected joint or joint.
AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic. Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Type of arthrogryposis with neurological disease or primary muscle belongs to the syndromic group.
Video Arthrogryposis
Signs and symptoms
Often, every joint in patients with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and 4% are just the arms involved. Each joint in the body, when affected, displays distinctive signs and symptoms: for example, the shoulder (internal rotation); wrists (volar and ulnar); hands (fingers in flexion and thumb fixed in the palm of the hand); hip (flexed, kidnapped and rotated externally, often dislocated); elbows (extension and pronation) and legs (clubfoot). The range of motion may differ between joints due to different deviations. Some types of arthrogryposis such as amyoplasia have the involvement of joints/limbs symmetrical, with normal sensations. Contractures in the joints can cause delayed progression within the first 5 years, but the severity of contractures does not necessarily predict the ability to walk in the end or incapacity.
Normal abnormalities are above normal in children with amyoplasia, but it is unknown how many of these children have above-normal intelligence, and no literature is available about the cause of this syndrome. There are several syndromes such as Freeman-Sheldon and Gordon's syndrome, which have craniofacial involvement. The form of amyoplasia arthrogryposis is sometimes accompanied by midline facial hemangioma. Arthrogryposis is not a diagnosis but a clinical finding, so the disease is often accompanied by syndrome or other diseases. This other diagnosis can affect any organ in the patient. There are several less common diagnoses such as pulmonary hypoplasia, cryptorchidism, congenital heart defects, tracheoesophageal fistulas, inguinal hernias, cleft palate, and eye abnormalities.
Maps Arthrogryposis
Cause
Arthrogryposis research has shown that anything that inhibits the movement of normal joints before birth can lead to joint contractures. Arthrogryposis can be caused by genetic and environmental factors. In principle: any factor that limits the movement of the fetus can cause innate contractures. The exact cause of artrogryposis is unknown.
Extrinsic Factors
Arthrogryposis malformations may be secondary to environmental factors such as: decreased intrauterine movement, oligohydramnios (low volume or abnormal distribution of intrauterine fluid), and defects in the fetal blood supply. Other causes can be: hyperthermia, limb immobilization and viral infection. Myasthenia gravis mother also causes rare cases in artrogryposis. The main cause in humans is fetal akinesia. However, this is debated lately.
Intrinsic factor
Arthrogryposis can also be caused by intrinsic factors. These include impaired development of muscle tissue and connective or neurological disorders.
Molecular basis
Studies have shown that there are more than 35 specific genetic disorders associated with arthrogryposis. Most of the mutations are missense, which means mutations produce different amino acids. Other mutations that can cause arthrogryposis are: single gene defects (X-linked recessive, autosomal recessive and autosomal dominant), mitochondrial defects and chromosomal disorders (eg, trisomy 18). This is mostly seen in distal artrogryposis. Mutations in at least five genes ( TNN12 , TNNT3 , TPM2 , MYH3 and MYH8 ) may cause distal artrogryposis. There may also be connective tissue - a neurological disorder of muscle development.
Muscle and connective tissue development disorder
Loss of muscle mass with an imbalance of muscle strength in the joint can cause connective tissue abnormalities. This leads to joint fixation and reduces fetal movement. Muscular abnormalities can also lead to decreased fetal movement. It can be: dystrophy, myopathy, and mitochondrial disorders. This is largely the result of abnormal function of dystrophin-glycoprotein-associated complex in skeletal muscle sarcolemma.
Neurological disorders
70-80% of the most severe form cases of arthrogryposis are caused by neurologic abnormalities, which can be either genetic or environmental.
The underlying etiology and pathogenesis of congenital contractures, especially arthrogryposis and mutation mechanisms remains an active area of ​​investigation, as identifying these factors may help develop the treatment and innate findings of artrogriposis.
Diagnosis
Research on prenatal diagnoses has shown that the diagnosis can be prenatally performed in about 50% of fetuses with artrogryposis. These can be found during routine ultrasound scans that show a lack of mobility and abnormal fetal position. There are other options for detailed visualization and structure using techniques like 4D ultrasound. In a child's clinic can be diagnosed with arthrogryposis by physical examination, confirmed by ultrasound, MRI , or muscle biopsy.
Classification
Some 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, TODV syndrome and Alves syndrome.
- Arthrogryposis epilepsy spasm of migraine brain disorders.
- Arthrogryposis IUGR thoracic dystrophy, also known as Van Bervliet syndrome.
- Arthrogryposis-like disorder, also known as Kuskokwim's disease.
- Artistic hand-like artrogryposis and sensorineural deafness.
- Arthrogryposis multiplex congenita CNS calcification.
- Distal arthrogryposis multiplex congenita ( AMCD ), also known as spinal muscular atrophy X-linked type 2
- Gordon Syndrome, also known as Distal Arthrogryposis, Type 2A.
- Arthrogryposis multiplex congenita, distal 2B type, also known as Freeman-Sheldon syndrome variant.
- Arthrogryposis multiplex congenita neurogenic type ( AMCN ). This particular type of AMC has been linked to the AMCN gene at the 5q35 locus. 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 ( AMCD1 ).
- Arthrogryposis ophthalmoplegia retinopathy, also known as Oculomelic amyoplasia.
- Arthrogryposis syndrome impaired renal function cholestasis, also known as ARC Syndrome.
Treatment
Arthrogryposis treatment includes occupational therapy, physical therapy, splinting and surgery. The main long-term goal of this treatment is to improve joint mobility, muscle strength and development of adaptive usage patterns that allow walking and independence with daily life activities. Because artrogryposis covers many different types, treatments vary between patients depending on the symptoms. Only a few good articles in which surgical techniques used to treat arthrogryposis are described. The surgery is described below.
Passive increase
There are a number of passive devices for improving limb movements, which are intended to be used to aid movement and promote muscle development. For example, the Wilmington Robotic Exoskeleton is a potential aid built on the rear brace, overshadowing the forearm and forearm. It can be difficult to fit and heavy and awkward to wear.
Researchers at the University of Delaware are developing light and unobtrusive therapeutic garments, suitable for babies and children, called Playskin Lifts. The outfit looks like ordinary clothes but contains a steel cord under the arm, which helps push the arm toward the raised position while allowing the wearer to move freely from that position.
Wrist surgery
Children with the type of amyoplasia of arthrogryposis usually have a curved and ulnar wrist. A dorsal carpal wedge osteotomy is indicated for wrists with excessive flexion flexion abnormalities when non-surgical interventions such as occupational therapy and splinting fail to improve function. On the dorsal side, at the midcarpus level, the sliced ​​osteotomy is made. The bone is sufficiently resected at least to be able to place the wrist in a neutral position. If the wrists are also highly deviated, more bone can be taken from the radial side to correct this disorder. This position is held in place with two K-cable crosses. In addition, tendon transfer from the extensor carpi ulnaris to the extension carpi radialis brevis may be performed to correct an ulnar or extension of the wrist extension, or both. This tendon transfer is only used if the carpi ulnaris extensor appears to be functional enough.
Operation of the thumb
Soft tissue envelopes in congenital contractual conditions such as locked thumbs or artrogrypotics often lack in two areas, the thumb-index network and the thumb flexor aspect. Often there is an increased skin appearance at the base of the index finger that is part of the deformity. This network can be used to coat the thumb-index network after a comprehensive release of all the strict structures to allow a greater range of thumbs. This technique is called the index rotation flap. The flap is taken from the radial side of the index finger. It is proximal based on the distal end of the thumb-index network. The lid is made as wide as possible, but still small enough to cover with excess skin on the side of the palm of the index finger. The flap is rotated around the most tightest part of the thumb to the thumb metacarpophalangeal joint, allowing for greater range of motion.
Other operations
Many other operations can also improve function in the arthrogryposis patient's joint. Surgery is usually present from tendon transfer and flapping movements of the skin, tailored to the individual.
Prognosis
People with AMC look worse at birth. AMC is considered unprogressive, so with proper medical care, things can get better. The joint contractures present will not be worse than at birth. There is no way to fully complete or cure AMC. But with proper care, most children make significant improvements in the range of motion and ability to move their limbs that allow them to perform daily activities of life, and live a relatively normal life.
The therapeutic interventions underlying the care of AMC include: stretching and range of motion, physical therapy, occupational, and speech, splinting and serial casting. Surgical intervention can also improve joint mobility and function. Other positive prognostic factors for independent walking are the active hip and knee, hip flexion contraction of less than 20 degrees and knee flexion contraction of less than 15 degrees without severe scoliosis.
Epidemiology
Arthrogryposis is a rare condition. Some authors say the overall prevalence is one in 3000 and others say it is one in 11000-12000 among live births of Europe. The congenital crowning leg is the most common single contracture and its prevalence is one in 500 live births.
See also
- X-linked spinal muscular atrophy type 2
References
External links
Source of the article : Wikipedia
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