Arthrogryposis

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Arthrogryposis_table_infobox_0

ArthrogryposisArthrogryposis_header_cell_0_0_0
Other namesArthrogryposis_header_cell_0_1_0 Arthrogryposis multiplex congenita (AMC)Arthrogryposis_cell_0_1_1
SpecialtyArthrogryposis_header_cell_0_2_0 Medical geneticsArthrogryposis_cell_0_2_1

Arthrogryposis, describes congenital joint contracture in two or more areas of the body. Arthrogryposis_sentence_0

It derives its name from Greek, literally meaning "curving of joints" (arthron, "joint"; grȳpōsis, late Latin form of late Greek grūpōsis, "hooking"). Arthrogryposis_sentence_1

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. Arthrogryposis_sentence_2

AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic. Arthrogryposis_sentence_3

Amyoplasia is characterized by severe joint contractures and muscle weakness. Arthrogryposis_sentence_4

Distal arthrogryposis mainly involves the hands and feet. Arthrogryposis_sentence_5

Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group. Arthrogryposis_sentence_6

Signs and symptoms Arthrogryposis_section_0

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. Arthrogryposis_sentence_7

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 and less commonly congenital vertical talus. Arthrogryposis_sentence_8

Range of motion can be different between joints because of the different deviations. Arthrogryposis_sentence_9

Some types of arthrogryposis like amyoplasia have a symmetrical joint/limb involvement, with normal sensations. Arthrogryposis_sentence_10

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. Arthrogryposis_sentence_11

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. Arthrogryposis_sentence_12

There are a few syndromes like the Freeman-Sheldon and Gordon syndrome, which have craniofacial involvement. Arthrogryposis_sentence_13

The amyoplasia form of arthrogryposis is sometimes accompanied with a midline facial hemangioma. Arthrogryposis_sentence_14

Arthrogryposis is not a diagnosis but a clinical finding, so this disease is often accompanied with other syndromes or diseases. Arthrogryposis_sentence_15

These other diagnoses could affect any organ in a patient. Arthrogryposis_sentence_16

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. Arthrogryposis_sentence_17

Causes Arthrogryposis_section_1

Research of arthrogryposis has shown that anything that inhibits normal joint movement before birth can result in joint contractures. Arthrogryposis_sentence_18

Arthrogryposis could be caused by genetic and environmental factors. Arthrogryposis_sentence_19

In principle: any factor that curtails fetal movement can result in congenital contractures. Arthrogryposis_sentence_20

The exact causes of arthrogryposis are unknown. Arthrogryposis_sentence_21

Extrinsic factors Arthrogryposis_section_2

The malformations of arthrogryposis can 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. Arthrogryposis_sentence_22

Other causes could be: hyperthermia, limb immobilization and viral infections. Arthrogryposis_sentence_23

Myasthenia gravis of the mother leads also in rare cases to arthrogryposis. Arthrogryposis_sentence_24

The major cause in humans is fetal akinesia. Arthrogryposis_sentence_25

However, this is disputed lately. Arthrogryposis_sentence_26

Intrinsic factors Arthrogryposis_section_3

Arthrogryposis could also be caused by intrinsic factors. Arthrogryposis_sentence_27

This includes molecular, muscle- and connective tissue development disorders or neurological abnormalities. Arthrogryposis_sentence_28

Molecular basis Arthrogryposis_section_4

Research has shown that there are more than 35 specific genetic disorders associated with arthrogryposis. Arthrogryposis_sentence_29

Most of those mutations are missense, which means the mutation results in a different amino acid. Arthrogryposis_sentence_30

Other mutations that could cause arthrogryposis are: single gene defects (X-linked recessive, autosomal recessive and autosomal dominant), mitochondrial defects and chromosomal disorders (for example: trisomy 18). Arthrogryposis_sentence_31

This is mostly seen in distal arthrogryposis. Arthrogryposis_sentence_32

Mutations in at least five genes (TNN12, TNNT3, TPM2, MYH3 and MYH8) could cause distal arthrogryposis. Arthrogryposis_sentence_33

There could be also connective tissue, neurological or muscle development disorders. Arthrogryposis_sentence_34

Muscle and connective tissue development disorders Arthrogryposis_section_5

Loss of muscle mass with an imbalance of muscle power at the joint can lead to connective tissue abnormality. Arthrogryposis_sentence_35

This leads to joint fixation and reduced fetal movement. Arthrogryposis_sentence_36

Also muscle abnormalities could lead to a reduction of fetal movement. Arthrogryposis_sentence_37

Those could be: dystrophy, myopathy and mitochondrial disorders. Arthrogryposis_sentence_38

This is mostly the result of abnormal function of the dystrophin-glycoprotein-associated complex in the sarcolemma of skeletal muscles. Arthrogryposis_sentence_39

Neurological abnormalities Arthrogryposis_section_6

Seventy to eighty percent of cases of the most severe forms of arthrogryposis are caused by neurological abnormalities, which can be either genetic or environmental. Arthrogryposis_sentence_40

The underlying aetiology and pathogenesis of congenital contractures, particularly arthrogryposis and the mechanism of the mutations remains an active area of investigation, because identifying these factors could help to develop treatment and congenital finding of arthrogryposis. Arthrogryposis_sentence_41

Diagnosis Arthrogryposis_section_7

Research on prenatal diagnosis has shown that a diagnosis can be made prenatally in approximately 50% of fetuses presenting arthrogryposis. Arthrogryposis_sentence_42

It could be found during routine ultrasound scanning showing a lack of mobility and abnormal position of the foetus. Arthrogryposis_sentence_43

There are other options for visualization of details and structures using techniques such as 4D ultrasound. Arthrogryposis_sentence_44

In clinic a child can be diagnosed with arthrogryposis with physical examination, confirmed by ultrasound, MRI, or muscle biopsy. Arthrogryposis_sentence_45

Classification Arthrogryposis_section_8

Some of the different types of AMC include: Arthrogryposis_sentence_46

Arthrogryposis_unordered_list_0

  • Arthrogryposis multiplex due to muscular dystrophy.Arthrogryposis_item_0_0
  • Arthrogryposis ectodermal dysplasia other anomalies, also known as Cote Adamopoulos Pantelakis syndrome, Trichooculodermovertebral syndrome, TODV syndrome and Alves syndrome.Arthrogryposis_item_0_1
  • Arthrogryposis epileptic seizures migrational brain disorder.Arthrogryposis_item_0_2
  • Arthrogryposis IUGR thoracic dystrophy, also known as Van Bervliet syndrome.Arthrogryposis_item_0_3
  • Arthrogryposis like disorder, also known as Kuskokwim disease.Arthrogryposis_item_0_4
  • Arthrogryposis-like hand anomaly and sensorineural deafness.Arthrogryposis_item_0_5
  • Arthrogryposis multiplex congenita CNS calcification.Arthrogryposis_item_0_6
  • Arthrogryposis multiplex congenita distal (AMCD), also known as X-linked spinal muscular atrophy type 2Arthrogryposis_item_0_7
  • Gordon syndrome, also known as distal arthrogryposis type 3.Arthrogryposis_item_0_8
  • Arthrogryposis multiplex congenita, distal type 2A, also known as Freeman–Sheldon syndrome.Arthrogryposis_item_0_9
  • Arthrogryposis multiplex congenita, distal type 2B, also known as Sheldon–Hall syndrome.Arthrogryposis_item_0_10
  • Arthrogryposis multiplex congenita neurogenic type (AMCN). This particular type of AMC has been linked to the AMCN gene on locus 5q35.Arthrogryposis_item_0_11
  • Arthrogryposis multiplex congenita pulmonary hypoplasia, also with a large number of synonyms.Arthrogryposis_item_0_12
  • Arthrogryposis multiplex congenita whistling face, also known as Illum syndrome.Arthrogryposis_item_0_13
  • Arthrogryposis multiplex congenita, distal type 1 (AMCD1).Arthrogryposis_item_0_14
  • Arthrogryposis ophthalmoplegia retinopathy, also known as Oculomelic amyoplasia.Arthrogryposis_item_0_15
  • Arthrogryposis renal dysfunction cholestasis syndrome, also known as ARC Syndrome.Arthrogryposis_item_0_16

Another form has been related to mutations in the leucine-rich glioma-inactivated 4 (LGI4) gene. Arthrogryposis_sentence_47

Treatment Arthrogryposis_section_9

The treatment of arthrogryposis includes occupational therapy, physical therapy, splinting and surgery. Arthrogryposis_sentence_48

The primary long-term goals of these treatments are increasing joint mobility and muscle strength and the development of adaptive use patterns that allow for walking and independence with activities of daily living. Arthrogryposis_sentence_49

Since arthrogryposis has many different types, the treatment varies between patients depending on the symptoms. Arthrogryposis_sentence_50

Only a few good articles exist in which a surgical technique that is used to treat arthrogryposis is described. Arthrogryposis_sentence_51

These surgeries are explained below. Arthrogryposis_sentence_52

Passive enhancement Arthrogryposis_section_10

There are a number of passive devices for enhancing limb movement, intended to be worn to aid movement and encourage muscular development. Arthrogryposis_sentence_53

For example, the Wilmington Robotic Exoskeleton is a potential assistive device built on a back brace, shadowing the upper arm and forearm. Arthrogryposis_sentence_54

It can be difficult to fit and heavy and awkward to wear. Arthrogryposis_sentence_55

Researchers at the University of Delaware are developing a light and unobtrusive therapeutic garment, suitable for babies and children, called the Playskin Lift. Arthrogryposis_sentence_56

The garment looks like normal clothing but contains bundled steel wires under the arms, which help to push the arms toward a lifted position while allowing the wearer to move freely from that position. Arthrogryposis_sentence_57

Wrist surgery Arthrogryposis_section_11

Children with the amyoplasia type of arthrogryposis usually have flexion and ulnar deviation of the wrists. Arthrogryposis_sentence_58

Dorsal carpal wedge osteotomy is indicated for wrists with excessive flexion contracture deformity when non-surgical interventions such as occupational therapy and splinting have failed to improve function. Arthrogryposis_sentence_59

On the dorsal side, at the level of the midcarpus, a wedge osteotomy is made. Arthrogryposis_sentence_60

Sufficient bone is resected to at least be able to put the wrist in a neutral position. Arthrogryposis_sentence_61

If the wrist also has ulnar deviation, more bone can be taken from the radial side to correct this abnormality. Arthrogryposis_sentence_62

This position is held into place with two cross K-wires. Arthrogryposis_sentence_63

In addition, a tendon transfer of the extensor carpi ulnaris to the extensor carpi radialis brevis may be performed to correct ulnar deviation or wrist extension weakness, or both. Arthrogryposis_sentence_64

This tendon transfer is only used if the extensor carpi ulnaris appears to be functional enough. Arthrogryposis_sentence_65

Thumb surgery Arthrogryposis_section_12

The soft tissue envelope in congenital contractual conditions such as clasped or arthrogrypotic thumbs is often deficient in two planes, the thumb-index web and the flexor aspect of the thumb. Arthrogryposis_sentence_66

There is often an appearance of increased skin at the base of the index finger that is part of the deformity. Arthrogryposis_sentence_67

This tissue can be used to resurface the thumb-index web after a comprehensive release of all the tight structures to allow for a larger range of motion of the thumb. Arthrogryposis_sentence_68

This technique is called the index rotation flap. Arthrogryposis_sentence_69

The flap is taken from the radial side of the index finger. Arthrogryposis_sentence_70

It is proximally based at the distal edge of the thumb-index web. Arthrogryposis_sentence_71

The flap is made as wide as possible, but still small enough to close with the excessive skin on the palmar side of the index finger. Arthrogryposis_sentence_72

The flap is rotated around the tightest part of the thumb to the metacarpophalangeal joint of the thumb, allowing for a larger range of motion. Arthrogryposis_sentence_73

Foot surgeries Arthrogryposis_section_13

Generally, foot surgery is usually reserved for patients with a walking or ambulatory potential. Arthrogryposis_sentence_74

Foot surgery may also be indicated to assist brace and orthosis fitting and hence promote supported standing. Arthrogryposis_sentence_75

The most common foot deformity in arthrogryposis is club feet or talipes equinovarus. Arthrogryposis_sentence_76

In the early years of life the serial casting according to the Ponseti method usually yields good results. Arthrogryposis_sentence_77

The Ponseti method can also be used as a first line treatment in older and more resistant cases. Arthrogryposis_sentence_78

In such severe and neglected cases bony surgery in the form of foot osteotomies and arthrodesis is usually indicated. Arthrogryposis_sentence_79

It is usually be accompanied by soft tissue surgery in the form of release of contracted tendon and capsular structures. Arthrogryposis_sentence_80

In older patients near skeletal maturity joint fusion or arthrodesis may be indicated as well. Arthrogryposis_sentence_81

Less frequent patients with arthrogryposis may develop congenital vertical talus also known as rocker bottom foot. Arthrogryposis_sentence_82

Similarly, congenital vertical talus is classically managed by serial casting according to the reversed Ponseti method. Arthrogryposis_sentence_83

Resistant or recurrent cases may be offered an extensive soft tissue release. Arthrogryposis_sentence_84

However this is fraught with risk of foot stiffness and pain in the long term. Arthrogryposis_sentence_85

Talectomy or excision of the talus to give room for creation of plantigrade foot has been practiced. Arthrogryposis_sentence_86

Naviculectomy or midtarsal resection arthroplasty represents a less invasive option with satisfactory short-term results. Arthrogryposis_sentence_87

Prognosis Arthrogryposis_section_14

AMC is considered non-progressive, so with proper medical treatment, things can improve. Arthrogryposis_sentence_88

The joint contractures that are present will not get worse than they are at the time of birth. Arthrogryposis_sentence_89

There is no way to completely resolve or cure AMC. Arthrogryposis_sentence_90

But with proper treatment, most children make significant improvements in their range of motion and ability to move their limbs which enables them to do activities of daily life, and live relatively normal lives. Arthrogryposis_sentence_91

Therapeutic interventions that are cornerstones in the treatment of AMC include: stretching and range of motion exercises, physical, occupational, and speech therapy, splinting and serial casting. Arthrogryposis_sentence_92

Surgical intervention may also improve joint mobility and function. Arthrogryposis_sentence_93

Other positive prognostic factors for independent walking were active hips and knees, hip flexion contractures of less than 20 degrees and knee flexion contractures of less than 15 degrees without severe scoliosis. Arthrogryposis_sentence_94

Epidemiology Arthrogryposis_section_15

Arthrogryposis is a rare condition. Arthrogryposis_sentence_95

Some authors say the overall prevalence is one in 3,000 and others say it is one in 11,000–12,000 among European live births. Arthrogryposis_sentence_96

Congenital clubfoot is the most common single contracture and its prevalence is one in 500 live births. Arthrogryposis_sentence_97

See also Arthrogryposis_section_16

Arthrogryposis_unordered_list_1


Credits to the contents of this page go to the authors of the corresponding Wikipedia page: en.wikipedia.org/wiki/Arthrogryposis.