Arthrogryposis is the name given to the contracture that occurs in various parts of the body before birth. Contracture is a condition where the joints of the body get permanently fixed in a straight or a bent position which restricts the movement of the joints partially or permanently. Congenital contractures can occur in one or multiple parts of the body, the latter is known as Arthrogryposis Multiplex Congenita.
Signs and Symptoms: most of the Arthrogryposis Multiplex Congenita is usually caused by
defects in the central nervous system which are usually structural or
functional in nature. The signs of Arthrogryposis Multiplex Congenita are
usually the following:
1.
Absence of movements around the
smaller or larger joints.
2.
Long tube-like limbs which have
a soft and doughy feeling.
3.
Clubbed foot or soft tissue
webbing around the affected joints.
4.
A groove across the top of the
mouth due to the absence of joining of the roof of the mouth.
5.
Long and abnormally slender
bones of the limbs.
Although these
are the common syndromes of Arthrogryposis Multiplex Congenita, there might be
individual specific syndromes which depend on the severity of the disease in
that particular individual. There are majorly two types of Arthrogryposis
Multiplex Congenita, Amyoplasia and Distal Arthrogryposis which is usually
caused by a group of genetic disorders.
Amyoplasia:
Amyoplasia is usually one of the most popular forms of Arthrogryposis Multiplex
Congenita where the multiple joints are affected along with inward curving of
the shoulders extended elbows and flexed wrists. The most affected joints are
usually the hips and shoulders. It is also featured by the presence of severely
clubbed foot along with birth marks. This disease is usually sporadic and may
not appear in any other family members.
Distal
Arthrogryposis on the other hand is a sub group of the disease which has 10 sub
variants. Other than the joint dysfunction in various parts of the body, the symptoms
usually vary from person to person and might be common if occurred in a family.
Sheldon-Hall syndrome, trismus-pseudocamptodactyly syndrome, Gordon syndrome,
multiple pterygium syndrome and Freeman-Sheldon syndrome are some of the common
types of Distal Arthrogryposis that are usually found.
Causes: The
main causes of Arthrogryposis Multiplex Congenita has not yet been confirmed
and it is said that in most cases it is usually caused by neural or muscular
lack of movement in the fetus. Connective tissue problem, maternal illness or
limited utero space are also thought to be the problems which leads to
Arthrogryposis Multiplex Congenita.
Arthrogryposis
Multiplex Congenita can be caused due to affected single genes which can be X-linked
traits, autosomal dominant or autosomal recessive. It might also be caused by
chromosomal defects or defects in the central or peripheral nervous systems.
The reasons may vary from genetic to environmental issues.
The primary
reason of this disease is thought to be the lack of movements after the joints
begin to develop in a fetus on the 6th week of pregnancy which
causes excessive connective tissue around the joints, leading to Arthrogryposis
Multiplex Congenita. This lack of movement may be caused due to abnormal
uterus, unavailability of space in the uterus, drugs used by the mother, virus
or trauma. Low levels of amniotic fluids might also lead to this condition.
One other cause
of Arthrogryposis Multiplex Congenita is the under development of peripheral
and central nervous system when the brain and the spinal cord do not close up
before the birth of the child. It may also be caused by muscle disorders like dystrophy
and mitochondrial defects in the chromosome of the fetus.
Population:
Arthrogryposis Multiplex Congenita is usually caused in both male and female
population equally where 1 out of 3000 babies are affected by the disease. It
majorly occurs in European, Asian and African populations.
Diagnosis:
The primary diagnosis of Arthrogryposis Multiplex Congenita is done by
observing the physical abnormalities in the child which is then tested to find
the underlying cause of the disease. Electromyography and imaging techniques
are the most common methods of testing the underlying cause.
Standard Treatments: Arthrogryposis Multiplex Congenita is usually treated with
physiotherapy which helps in increasing the movement of the joints that have
been affected. In certain cases, surgery might be required in order to initiate
the movement of the joints. Genetic therapy may be needed to benefit the
individuals. Symptom specific treatments are also available.
