Diagnosis of arthrogryposis condition

At the prenatal stage, ultrasonography detects abnormal limb conditions or limited movement of the joints, but it is not possible to determine the actual extent of arthrogryposis.

However, after birth, the diagnostic evaluation includes screening through

•          X-rays, CT scan, and MRI

•          Genetic testing through blood work

•          Muscle Biopsy to check the condition of the muscle fibres

•          Electromyography – EMG to identify the type of arthrogryposis – myopathic or neurogenic arthrogryposis

How awareness is essential to avoid stress among parents

The parents should be made aware of the prenatal condition of the fetus. Arthrogryposis is detectable through early diagnosis, prenatal evaluation, and even scanning through MRI and ultrasonography.

It is possible to detect arthrogryposis conditions in the first or early second trimester of pregnancy.

Prenatal diagnosis of arthrogryposis could be accurate up to 50%. The other factors determining the severity of the disease depend upon other anomalies, abnormal muscle formation, lung volume, distal muscle atrophy, and other factors.

This diagnosis goes a long way in preparing the parents for their child regarding mental and physical care and management.

Need for careful assessment

It is essential to go for a thorough prenatal assessment in event of family history of arthrogryposis. If arthrogryposis condition is detected, suitable actions are suggested to improvise the condition such as –

• The expecting mother can consume coffee or healthy caffeinated drinks to stimulate movement in the baby and muscle growth.
• If possible, the baby can be delivered before time if the lungs are properly developed. This helps in commencing early treatment for better outcomes.
• If the detection of arthrogryposis happens on birth or just after birth, the treatment approach depends upon the extent of severity. In some babies, it is very mild and goes nearly undetected, while some children have issues in feeding and need special handling.

Role of Genetic counseling and Prognosis

Genetic counseling for arthrogryposis provides useful information and support to parents at risk of having children affected by this condition. Through this counseling, appropriate tests are performed upon whose evaluation, the parents are briefed about risks and the outcome associated with this condition and its management.

Genetic counseling plays a crucial role in case there is a family history of arthrogryposis. It could be possible that any of the family members may show one or more symptoms. For instance, gene mutation in TPM2 and MYBPC1 can lead to distal arthrogryposis type 1 conditions. This condition occurs even when a single copy of the altered gene in each cell is adequate to cause the disorder.

In pathogenic variants in more than ten genes that encode protein for myofibers, contractile functions can also lead to distal arthrogryposis. The names of the genes are TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2, PIEZO2, ECEL1, DOK7, and RAPSN.