Pediatric patient: what is arthrogryposis?

By Cristiano Antonino On Dec 14, 2022

Arthrogryposis is a condition that-right at the origin of the name Marfan Syndrome-was described by Dr. Marfan in the 19th century and named after him

Later, the better definition of Marfan Syndrome differentiated the latter (while retaining Marfan’s name) from multiple arthrogryposis.

This is a condition characterized by multiple contractures with joint locking that originates and then is associated with reduced joint motility in the prenatal period.

Causes of arthrogryposis

The causes that can cause arthrogryposis can be varied and include:

a neurological deficit, both central and peripheral, resulting in impaired muscle function (contractures) and locking at the joint;
a myopathy, that is, a disease predominantly at the muscle level;
a joint and skeletal-level (usually district) malformation.

Certain prenatal conditions, such as a marked reduction in amniotic fluid or multiple pregnancy, may condition a major constriction of the fetus resulting in altered osteo-articular and muscle-tendon development and thus arthrogripposis.

In the presence of arthrogripposis, it is necessary to carry out in-depth investigations to assess whether there may not be other malformations at the same time and thus we are not facing a broader problem (e.g., a syndrome such as Marfan syndrome).

It is therefore necessary to check statural and weight growth, investigate each organ and apparatus, and look for any signs of even nuanced mental retardation (assessment of psychomotor and intellectual development).

Diagnosis of arthrogryposis

A thorough pediatric examination, dermatologic evaluation, and orthopedic checkup will be the first things to do.

From them will derive the further checks to be scheduled.

A consultation at a medical genetics center will then be necessary to orient toward a more precise diagnostic framing, to establish any further investigations (e.g., genetic), to delineate the family tree and thus to research whether others in the same household are affected by the same problem and thus to define possible heredity and future reproductive risk.

Arthrogryposis therapy

Therapy is related to diagnosis and the same can be said of prognosis over time.

Regarding the existence of Centers specializing in arthrogryposis, reference should always be made to the definitive diagnosis since there are Centers dedicated to specific syndromes and-in the case of an arthrogryposis on an orthopedic or neuromuscular basis-specialized centers in pediatric orthopedics or neurological institutes.

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