What are the other Names for this Condition? (Also known as/Synonyms)

• Congenital Multiple Arthrogryposis
• Guérin-Stern Syndrome
• Rocher-Sheldon Syndrome

What is Arthrogryposis Multiplex Congenita? (Definition/Background Information)

• Arthrogryposis Multiplex Congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body before birth
• A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle atrophy
• AMC is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions
• It is suspected that AMC is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e., maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes
• Treatment varies based on the signs and symptoms found in each person but may include physical therapy, removable splints, exercise, and/or surgery

(Source: Arthrogryposis Multiplex Congenita; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Arthrogryposis Multiplex Congenita? (Age and Sex Distribution)

• Arthrogryposis Multiplex Congenita is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Arthrogryposis Multiplex Congenita? (Predisposing Factors)

The risk factors for Arthrogryposis Multiplex Congenita may include:

• Certain environmental factors including maternal health
• Genetic factors such as inheritance of mutated genes and chromosomal abnormalities
• Presence of other genetic disorders or syndromes

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Arthrogryposis Multiplex Congenita? (Etiology)

The exact cause of Arthrogryposis Multiplex Congenita is not fully understood. AMC is thought to be related to decreased fetal movement during development, which can occur for a variety of reasons.

• When a joint is not moved for a period of time, the extra connective tissue may grow around it, fixing it in place. Lack of joint movement also means that tendons connected to the joint are not stretched to their normal length, which can make normal joint movement difficult
• In general, there are four causes of decreased fetal movement before birth:
  • Abnormal development of muscles. In most cases, the specific cause for this cannot be identified. Suspected causes include muscle diseases, maternal fever during pregnancy, and viruses which may damage the cells that transmit nerve impulses to the muscles
  • Insufficient room in the uterus for normal movement. For example, multiple fetuses may be present, the mother may lack normal amounts of amniotic fluid, or there may be uterine structural abnormalities
  • Malformations of the central nervous system (the brain and/or spinal cord). In these cases, arthrogryposis is usually accompanied by a wide range of other symptoms
  • Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint
• Arthrogryposis Multiplex Congenita is not inherited in most cases; however, a genetic cause can be identified in about 30% of affected people. It can be a component of many different genetic conditions, including those caused by a single gene change or a chromosomal abnormality, such as trisomy 18
• Genetic conditions sometimes associated with AMC include some connective tissue disorders; muscle disorders such as muscular dystrophies or congenital myopathies; and certain mitochondrial disorders
• Depending on the underlying genetic cause, it may be inherited in an autosomal recessive, autosomal dominant or X-linked manner
• Some cases are thought to have multifactorial inheritance, which means that both genetic and environmental factors may play a role in causing the condition

AMC can be a component of numerous condition caused by environmental factors, single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes.

(Source: Arthrogryposis Multiplex Congenita; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Arthrogryposis Multiplex Congenita?

The signs and symptoms of Arthrogryposis Multiplex Congenita may include: (Based on the frequency of symptoms observed)

Very frequently present symptoms in 80-99% of the cases:

• Abnormality of the gastric mucosa
• Abnormality of the pleura
• Abnormality of the wrist
• Aplasia/hypoplasia of the lungs
• Congenital diaphragmatic hernia
• Depressed nasal ridge
• Gastroschisis
• Hip dislocation
• Low-set, posteriorly rotated ears
• Lymphedema
• Polyhydramnios
• Scoliosis
• Talipes 
• Ulnar deviation of finger

(Source: Arthrogryposis Multiplex Congenita; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Arthrogryposis Multiplex Congenita Diagnosed?

Arthrogryposis Multiplex Congenita is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Arthrogryposis Multiplex Congenita?

The complications of Arthrogryposis Multiplex Congenita may include:

• Walking difficulties, immobility
• Complications of underlying disorders, if any

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Arthrogryposis Multiplex Congenita Treated?

The treatment of Arthrogryposis Multiplex Congenita varies based on the signs and symptoms present in each person and the severity of the condition.

• Early in life, physical therapy to stretch contractures can improve the range of motion of affected joints and prevent muscle atrophy
• Splits can also be used in combination with these stretching exercises. For most types of arthrogryposis, physical and occupational therapy have proven very beneficial in improving muscle strength and increasing the range of motion of affected joints
• Some patients, however, have persistent functional difficulties despite a rigorous physical therapy regimen
• In these cases, surgery may be recommended to achieve better positioning and increase the range of motion in certain joints
• Rarely, tendon transfers have been done to improve muscle function

(Source: Arthrogryposis Multiplex Congenita; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Arthrogryposis Multiplex Congenita be Prevented?

Currently, Arthrogryposis Multiplex Congenita may not be preventable.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Arthrogryposis Multiplex Congenita? (Outcomes/Resolutions)

The long-term outlook (prognosis) for people with Arthrogryposis Multiplex Congenita depends on the severity of the condition, the underlying cause, and the affected person's response to therapy.

• The degree to which muscles and joints are affected varies significantly from person to person
• AMC can be associated with a variety of conditions that are each characterized by unique symptoms. In general, many people affected by AMC have a good prognosis
• With physical therapy and other available treatments, substantial improvement in joint function and mobility is normally possible
• Most people with AMC are of normal intelligence and are able to lead productive, independent lives as adults

(Source: Arthrogryposis Multiplex Congenita; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Additional and Relevant Useful Information for Arthrogryposis Multiplex Congenita:

Arthrogryposis Multiplex Congenita is also known by the following names: 

• Congenital Arthromyodysplasia
• Fibrous Ankylosis of Multiple Joints
• Myodystrophia Fetalis Deformans
• Otto Syndrome
• Rossi Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/