Arthrogryposis
Encyclopedia
Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder
that is characterized by multiple joint
contracture
s and can include muscle weakness
and fibrosis
. It is a non-progressive disease. The disease derives its name from Greek, literally meaning 'curved or hooked joints'.
There are many known subgroups of AMC, with differing signs, symptoms, causes etc. In some cases, few joints may be affected and may have a nearly full range of motion. In the most common type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back.
Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation seen.
, pulmonary hypoplasia
, respiratory problems, growth retardation, midfacial hemangioma, facial and jaw variations, and abdominal hernias. Cognition and language are usually normal.
of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities. In general, the causes can be classified into extrinsic and intrinsic factors.
Research has shown that anything that prevents normal joint movement before birth can result in joint contractures. The joint itself may be normal. However, when a joint is not moved for a period of time, extra connective tissue
tends to grow around it, fixing it in position. Lack of joint movement also means that tendon
s connecting to the joint are not stretched to their normal length; short tendons, in turn, make normal joint movement difficult. (This same kind of problem can develop after birth in joints that are immobilized for long periods of time in casts.)
The principal cause of AMC is believed to be decreased fetal movements (akinesia) caused by maternal or fetal abnormalities. It is associated with neurogenic and myopathic disorders. It is believed that the neuropathic form of AMC involves a deterioration in the anterior horn cell leading to muscle weakness and fibrosis.
In most cases, arthrogryposis is not a genetic
condition and does not occur more than once in a family. In about 30% of the cases, a genetic cause can be identified. The risk of recurrence for these cases varies with the type of genetic disorder. There is a rare autosomal recessive form of the disease known to exist
s and general clinical findings rule out other disorders and provides evidence for AMC.
including stretching ,strengthening, and mobility training are often provided to improve flexion and range of motion to increase mobility. Occupational therapy
(may also include casting
, splint
ing of affected joints) can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of living with a disability. Since there is a variety of mobility impairments, individually tailored orthopaedic correction is often beneficial. Orthopedic surgery, which include osteotomy or external Ilizarov fixator, may be elected to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction of unilateral hip dislocation, in cases where these surgeries improve quality of life. However, in most cases, the contractures would recur despite surgery. A surgery called Tendon Release is usually done to stretch out the tendon the makes most patients walk on there toes.
, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form, at 43% of reported cases. The majority of individuals thrive, with a minority strongly affected by respiratory muscle involvement.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
that is characterized by multiple joint
Joint
A joint is the location at which two or more bones make contact. They are constructed to allow movement and provide mechanical support, and are classified structurally and functionally.-Classification:...
contracture
Contracture
A muscle contracture is a permanent shortening of a muscle or joint.. It is usually in response to prolonged hypertonic spasticity in a concentrated muscle area, such as is seen in the tightest muscles of people with conditions like spastic cerebral palsy....
s and can include muscle weakness
Muscle weakness
Muscle weakness or myasthenia is a lack of muscle strength. The causes are many and can be divided into conditions that have true or perceived muscle weakness...
and fibrosis
Fibrosis
Fibrosis is the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This is as opposed to formation of fibrous tissue as a normal constituent of an organ or tissue...
. It is a non-progressive disease. The disease derives its name from Greek, literally meaning 'curved or hooked joints'.
There are many known subgroups of AMC, with differing signs, symptoms, causes etc. In some cases, few joints may be affected and may have a nearly full range of motion. In the most common type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back.
Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation seen.
Classification
Some of the different types of AMC include:- Arthrogryposis multiplex due to muscular dystrophyMuscular dystrophyMuscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In the 1860s, descriptions of boys who...
. - Arthrogryposis ectodermal dysplasiaEctodermal dysplasiaEctodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar...
other anomalies, also known as Cote Adamopoulos Pantelakis syndrome, Trichooculodermovertebral syndrome, TODV syndrome and Alves syndrome. - Arthrogryposis epileptic seizures migrational brain disorder.
- Arthrogryposis IUGR thoracic dystrophy,also known as Van Bervliet syndrome.
- Arthrogryposis like disorder, also known as Kuskokwim disease.
- Arthrogryposis-like hand anomaly and sensorineural deafness.
- Arthrogryposis multiplex congenita CNS calcification.
- Arthrogryposis multiplex congenita distal (AMCD), with a large number of synonyms such as Arthrogryposis multiplex congenita, distal, x-linked (AMCX1) and Arthrogryposis spinal muscular atrophy
- Gordon Syndrome, also known as Distal Arthrogryposis, Type 2A.
- Arthrogryposis multiplex congenita, distal type 2B, 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 on locusLocus (genetics)In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...
5q35. 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 renal dysfunction cholestasis syndrome, also known as ARC Syndrome.
Signs and symptoms
There are numerous symptoms for this group of conditions. Some of the more common signs and symptoms are associated with the shoulder (internal rotation), elbow (extension and pronation), wrist (volar and ulnar), hand (fingers in fixed flexion and thumb-in-palm), hip (flexed, abducted and externally rotated, often dislocated), knee (flexion) and foot (clubfoot). Complications may include scoliosisScoliosis
Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
, pulmonary hypoplasia
Pulmonary hypoplasia
Pulmonary hypoplasia is incomplete development of the lungs, resulting in an abnormally low number or size of bronchopulmonary segments or alveoli. A congenital malformation, it most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs...
, respiratory problems, growth retardation, midfacial hemangioma, facial and jaw variations, and abdominal hernias. Cognition and language are usually normal.
Causes
The cause is unknown, although several mechanisms have been suggested. This includes hyperthermiaHyperthermia
Hyperthermia is an elevated body temperature due to failed thermoregulation. Hyperthermia occurs when the body produces or absorbs more heat than it can dissipate...
of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities. In general, the causes can be classified into extrinsic and intrinsic factors.
Extrinsic
- There is insufficient room in the uterusUterusThe uterus or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species...
for normal movement. For example, fetal crowding; the mother may lack a normal amount of amniotic fluidAmniotic fluidAmniotic fluid or liquor amnii is the nourishing and protecting liquid contained by the amniotic sac of a pregnant woman.- Development of amniotic fluid :...
or have an abnormally shaped uterus.
Intrinsic
- muscles.
- Neurological - Central nervous systemCentral nervous systemThe central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...
and spinal cordSpinal cordThe spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the brain . The brain and spinal cord together make up the central nervous system...
are malformed. In these cases, a wide range of other conditions usually accompanies arthrogryposis. - Connective Tissue - Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.
Research has shown that anything that prevents normal joint movement before birth can result in joint contractures. The joint itself may be normal. However, when a joint is not moved for a period of time, extra connective tissue
Connective tissue
"Connective tissue" is a fibrous tissue. It is one of the four traditional classes of tissues . Connective Tissue is found throughout the body.In fact the whole framework of the skeleton and the different specialized connective tissues from the crown of the head to the toes determine the form of...
tends to grow around it, fixing it in position. Lack of joint movement also means that tendon
Tendon
A tendon is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fasciae as they are all made of collagen except that ligaments join one bone to another bone, and fasciae connect muscles to other...
s connecting to the joint are not stretched to their normal length; short tendons, in turn, make normal joint movement difficult. (This same kind of problem can develop after birth in joints that are immobilized for long periods of time in casts.)
The principal cause of AMC is believed to be decreased fetal movements (akinesia) caused by maternal or fetal abnormalities. It is associated with neurogenic and myopathic disorders. It is believed that the neuropathic form of AMC involves a deterioration in the anterior horn cell leading to muscle weakness and fibrosis.
In most cases, arthrogryposis is not a genetic
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
condition and does not occur more than once in a family. In about 30% of the cases, a genetic cause can be identified. The risk of recurrence for these cases varies with the type of genetic disorder. There is a rare autosomal recessive form of the disease known to exist
Diagnosis
To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle biopsies, blood testBlood test
A blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a needle, or via fingerprick....
s and general clinical findings rule out other disorders and provides evidence for AMC.
Treatment
While there is no reversal of this condition, individual quality of life can be greatly improved. As each person will respond differently, and will have different needs, a combination of therapies is beneficial. Physical therapyPhysical therapy
Physical therapy , often abbreviated PT, is a health care profession. Physical therapy is concerned with identifying and maximizing quality of life and movement potential within the spheres of promotion, prevention, diagnosis, treatment/intervention,and rehabilitation...
including stretching ,strengthening, and mobility training are often provided to improve flexion and range of motion to increase mobility. Occupational therapy
Occupational therapy
Occupational therapy is a discipline that aims to promote health by enabling people to perform meaningful and purposeful activities. Occupational therapists work with individuals who suffer from a mentally, physically, developmentally, and/or emotionally disabling condition by utilizing treatments...
(may also include casting
Orthopedic cast
An orthopedic cast, body cast or surgical cast, is a shell, frequently made from plaster, encasing a limb to hold a broken bone in place until healing is confirmed...
, splint
Splint
Splint may refer to:* Splint , a medical device for the immobilization of limbs or spine* Splint , a device for checking computer programs...
ing of affected joints) can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of living with a disability. Since there is a variety of mobility impairments, individually tailored orthopaedic correction is often beneficial. Orthopedic surgery, which include osteotomy or external Ilizarov fixator, may be elected to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction of unilateral hip dislocation, in cases where these surgeries improve quality of life. However, in most cases, the contractures would recur despite surgery. A surgery called Tendon Release is usually done to stretch out the tendon the makes most patients walk on there toes.
Prognosis
Individuals with AMC are aided by vigorous therapy and in some cases surgical intervention. This varies to some degree, depending on the severity of mobility reduction. AMC is not a progressive disorder. Typically these individuals have normal cognition and speech and therefore the potential for productive, rewarding, and independent lives.Epidemiology
AMC is relatively rare occurring in 1 out of every 3,000 live births. AmyoplasiaAmyoplasia
Amyoplasia is a generalized lack in the newborn of muscular development and growth, with contracture and deformity at most joints. It is the most common form of arthrogryposis....
, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form, at 43% of reported cases. The majority of individuals thrive, with a minority strongly affected by respiratory muscle involvement.
Affected people
- Celestine Tate HarringtonCelestine Tate HarringtonCelestine Tate Harrington was a quadriplegic street musician who was well known for playing the keyboard with her lips and tongue on the Atlantic City boardwalk.- Biography :...
, a quadriplegic street musician who performed at the Atlantic City Boardwalk and author of the 1996 book, "Some Crawl and Never Walk." - Asta PhilpotAsta PhilpotAsta Anthony Philpot is an American man living in Leeds , who was the protagonist of a 2007 BBC One documentary film titled For one night only. He is affected with arthrogryposis, which impairs, since his birth, his physical ability of movement...
, an American-born man living in England, who was the protagonist of a BBCBBCThe British Broadcasting Corporation is a British public service broadcaster. Its headquarters is at Broadcasting House in the City of Westminster, London. It is the largest broadcaster in the world, with about 23,000 staff...
documentary about prostitutionProstitutionProstitution is the act or practice of providing sexual services to another person in return for payment. The person who receives payment for sexual services is called a prostitute and the person who receives such services is known by a multitude of terms, including a "john". Prostitution is one of...
as a means of offering the chance of sexual experiences to people with disabilities. - Lee PearsonLee PearsonDavid Lee Pearson, CBE is a nine-times paralympic games gold medallist having represented British para-equestrianism in Sydney, Athens and Beijing. He also has six world-championship and three European titles...
, a 9-time gold medal winner at the Paralympic games in dressageDressageDressage is a competitive equestrian sport, defined by the International Equestrian Federation as "the highest expression of horse training." Competitions are held at all levels from amateur to the World Equestrian Games...
. - Ryan Lingholm, a bowler that was featured on CNN and Good Morning America after bowling a perfect game in October of 2007.
- Sunny TaylorSunny TaylorSunaura "Sunny" Taylor is an American painter and activist for disability and animal rights. She currently resides in Oakland, California, and has taught classes at the University of California, Berkeley....
, an American painter and activist. - Josh Twelves, a YouTube comedian actor from Utah.
- Prudence Mabhena, lead singer for the band "Liyana" and subject of the short documentary Music by PrudenceMusic by PrudenceMusic by Prudence is a 2010 short documentary film directed and produced by Roger Ross Williams. It tells the uplifting story of the now 24-year-old Zimbabwean singer-songwriter Prudence Mabhena, and follows her remarkable transcendence from a world of hatred and superstition into one of music,...
, which won an Academy Award for Best Documentary (Short Subject) in 2009. - Charles R. Martin Jr., M.D., an American man (died February 14, 2011) who lived in Phoenix who was born with arthrogryposis but through perseverance and drive became the only Medical Doctor in the history of the American Medical Association with this condition, who cared for and performed minor surgical procedures on patients.
- John Nellie Nelson, A Pacific Lutheran University football coach and ambassador to the PLU community.
- Luca "LazyLegz" PatuelliLuca PatuelliLuca Patuelli , nicknamed Lazylegz, is a Canadian b-boy.He was born with Arthrogryposis , a muscle disorder which affects his legs....
, A Canadian B-boy who has appeared on The Today Show, So You Think You Can Dance CanadaSo You Think You Can Dance CanadaSo You Think You Can Dance Canada was a dance competition and reality show that aired on CTV.Based on the original American TV show So You Think You Can Dance, the Canadian series showcased the best in Canadian dancing talent. Each season, the show held auditions in major cities across the...
, and America's Got Talent, and performed at the 2010 Winter Paralympics opening ceremony in Vancouver. - Randy FitzgeraldN0M4DRandy "N0M4D" Fitzgerald , is a world renowned professional video game player, and game designer who has shocked the world by his unique and amazing ability to perform at live video game events. Randy was born with Arthrogryposis,...
, A professional gamer who goes by the gamertag "N0M4D" plays only with his lips and chin. - A. Mustafa Siddiqui, an Indian English Poet, Novelist, and Editor.
- Dean Olivas, an American powerhockey player for the Michigan Mustangs. He's won many awards as a goaltender despite being affected by Arthrogryposis.
- Ben Kelly, Has Arthrogryposis and resides in the U.S. He is a nationally awarded qualitative writer, public speaker, and disability advocate.
- Jason Lazarus, an American photographer
- Mike Begum, a gamer who goes by the name of Broly or Legs who plays Street Fighter and Smash Brothers series of fighting games competitively.
- Eric Swymer, American artist currently based in Los Angeles, formerly of Atlanta Georgia.
- Jennifer Kumiyama, a singer/actress cast in Disney's "Aladdin; A Musical Spectacular" at Disney California Adventure Theme Park. Will appear in "The Surrogate" (2013) as "Carmen". Appeared in Warner Bros. "PopStars2" in 2000.
- John Henry III owns a successful business in Fort Wayne, IN (JH Specialty, Inc) He was born with Arthrogryposis which primarily affected his knees. He was treated at the Shrine Hospital for Children in Chicago from birth until the age of 18.
- Melissa Sanchez graphic designer and illustrator living in Los Angeles, CA.
- Joshua Appleberry, a teacher and coach for the YMCA. Opperated on by the renowned doctors Eugene Bleck and Lawrence Rinsky of Stanford University. Resides in Northern California and is an avid hiker.
- Nicholas C Bradley, was a goaltender for Team USA Jr. National Sled Hockey Team, as we'll as a avid world travler.
- Larime Taylor mouth artist and horror author from Arizona.
External links
- AMC Support (United States)
- Avenues (United States)
- The Michael Fund (United States)
- Women for AMC Awareness
- The Arthrogryposis Group (United Kingdom)
- Enabled - A True Story About A Lady with Arthrogryposis (United Kingdom)