Emergency Management of Arthrogryposis - Causes, Symptoms, Diagnosis, and Treatment

What Is Arthrogryposis?

Arthrogryposis, also known as arthrogryposis multiplex congenital (AMC), is termed when numerous conditions affect joint contractures. A contracture is a congenital condition that causes the permanent tightening of the skin, muscles, and tendons, due to which a person's joints become stiff, which limits motion. As a result, a person cannot bend or extend their limbs partially or completely. Arthrogryposis is considered a condition involving more than 300 disorders, including muscular dystrophy( a condition in which permanent muscle weakness is caused) and18 trisomy or Edward syndrome(a genetic condition that results in delayed physical growth during fetal development).

Arthrogryposis stands for “Arthro,” which means joint, and “gryposis,” which means cooking. Therefore, arthrogryposis means crooking of the joints. The prevalence of arthrogryposis is not too common, as seen in 1 in 3,000 live births. Babies who are born with arthrogryposis have their joints stiff or frozen. The joints might be fixed, curved, or straight joints frozen in place of people born with such disease. A joint is a place where two or more bones meet. It may affect various joints of the body, such as.

• Hip.
• Wrist.
• Neck.
• Knees.
• The shape of the joints differs, and several other distinctive features are present in babies born with this disease than in adults.
• The elbows are extended.
• The knees are slightly extended.
• The shoulders are sloped and rotated towards the center of the body.
• The dislocation of hips is commonly seen.
• The curvature of the spine is seen sideways.
• Their feet are pointed inward and downwards.
• The fingers and the wrists seem to be curled.

What Are the Causes of Arthrogryposis(AMC)?

The exact reasons are unknown, but sometimes it is caused due to numerous previous conditions. Another reason suspected by experts is that they result from certain environmental, genetic, and other factors, such as-

1. Muscular dystrophy is a genetic disorder that can cause this disease.
2. Limited movement of the baby that is caused by inadequate room in the utero and insufficient amniotic fluid. If the movement is limited, then excess tissue forms around the joints.
3. A maternal disorder called multiple sclerosis (MS) could be another reason. It is a condition that causes damage to the nerve fibers is caused in the central nervous system, due to which vision becomes impaired, muscle weakness occurs, numbness, and loss of balance are seen. The risk of MS increases due to hereditary reasons.
4. A person may have a disease of the central nervous system, such as spina bifida (a condition in which incomplete spine development occurs during fetal growth) and Moebius syndrome (a condition in which numbness or paralysis of certain cranial nerves occurs) or the nerves gets fused sometimes.
5. A disease of the neuromuscular system occurs, such as Myasthenia Gravis (an autoimmune disease in which muscle weakness increases daily).
6. Diseases of the connective tissue, such as dysplasia (growth of the bones becomes restricted) and meta trophic dwarfism.
7. Pri-natal viral infection.

What Are the Types of Arthrogryposis?

The types of arthrogryposis reported so far are more than 200. Of these, the most common types are-

• Amyloplasia is the most common, with 43 % of reported cases. In amyloplasia, contracture of limbs is seen.
• Distal arthrogryposis is when the contracture involves the hand and feet but not the larger joints.

What Are the Symptoms of Arthrogryposis?

The symptoms in arthrogryposis patients may vary too much from person to person and as per the severity of the disease. Even in the same family, the symptoms can differ from one person to another In some cases, only the leg may be involved, while in others, both the arms and legs are involved. Some of the common symptoms that everyone suffering from arthrogryposis suffers are-

1. Restricted movement of the small and the large joints.

2. Inability to move the small and large joints.

3. The muscles become underdeveloped (hypoplastic muscles).

4. The limbs become soft and tube-shaped.

5. Soft tissue webbing is seen over the joints, which prevents them from moving.

6. In the wrist, elbow, shoulder, and hand, muscle contracture commonly occurs.

Some other symptoms that some people experience are-

• The involvement of lower extremities is commonly seen, such as knees, hips, and ankles, followed by arms. The other involved joints are- the shoulder, jaw, fingers, etc.
• Throughout the body, muscle weakness is present.
• The curvature of the spine also develops in some patients.
• Extra slender and fragile long bones are present in some people.
• Presence of undescended testicles.

Symptoms associated with a very small of people are-

• Dislocation of hips, knees, and elbows.
• The structure of the central nervous system (brain and the spine) becomes problematic.
• The functions of the central nervous system are improper.

How Is Arthrogryposis(AMC) Diagnosed?

Usually, there is no particular test to diagnose the presence of arthrogryposis at a pre-natal stage. Routine ultrasounds can only diagnose it in the second trimester of pregnancy. It shows atypical limbs that might be suggestive of arthrogryposis. After the birth of a child, it can be diagnosed by the symptoms and some other tests that are-

• Muscle biopsies are also done to determine which small part of the muscle is taken and studied.
• X-rays are also done to ascertain the limitation of joints.
• Electromyography (EMG).
• Genome sequencing is also done to determine if the genes are altered.
• Blood tests are also done to determine the abnormalities of genes and chromosomes.

What Is the Treatment of Arthrogryposis?

The treatment for arthrogryposis is quite difficult; in some cases, it is no cure. However, the quality of life can be improved in certain ways. The treatment varies for different people as per the underlying cause. The possible treatment includes-

1. Casts that help in moving the joints that become stiff.

2. Physical therapies are suggested to help the joints' mobility and prevent muscle atrophy (a condition in which muscle wastes away).

3. Stretching exercises help in increasing the flexibility of joints.

4. Medications are ineffective against arthrogryposis, but associated conditions can be treated with them, like chest infection, arthritis, etc.

5. Surgical management is the last approach when no other treatment works. The surgery of ankles, hips, knees, and wrists is also done to increase the range of motion. To increase muscle function, tendon transfer can be done.

Conclusion

This article gives details of arthrogryposis, a group of conditions in which the joints become stiff or frozen, resulting in restricted motion of the joints. The reasons can be different such as decreased amniotic fluid, restricted fetal movement, etc. Arthrogryposis is an incurable disease, but treatment improves the quality of life upto some extent. This disease can be managed through various physical exercises or surgeries.