Introduction to Arthrogryposis

Arthrogryposis

Dr. Ratnav Ratan offers consultations and treatment onarthrogryposis

conditions detected in new born babies and growing babies. He is one of the leading pediatric orthopedist in Gurgaon with a great deal of experience in treating children with orthopedic issues and also in treating sports injuries.

Treatment of arthrogryposis is a long and comprehensive one. It is advisable to begin treatment without further delay to avoid complications later on.

Arthrogryposis or arthrogryposis multiplex congenital (AMC) is a rare disease in which the hands, wrists, shoulders, elbows, feet, hips, and knees are affected. The patient’s body is affected by multiple joint stiffness or contractures and overall muscle weakness at birth.

Arthrogryposis is a Greek word for curved or hooked joints

With nearly 150 variations detected, arthrogryposis occurs in one of every 3000 births.

The broad categories of arthrogryposis are –

• The arms and legs of the patient are affected
• The limbs, along with other body parts, are affected
• The limbs and the central nervous system are affected

Common characteristics and complications associated with arthrogryposis:

Face – Facial asymmetry and birthmarks

Limbs – Hand contractures and/or Clubfeet

Joints – Dislocated hips

Internally rotated shoulders and limbs

Spine – Scoliosis

Absence of Muscle or atrophy

Lungs – Respiratory problems and aspiration of fluids

Skin – Webbed and/or dimpled skin

Internal Organs – Intestine, kidney, bladder and genital malformation

What causes arthrogryposis?

The exact cause of arthrogryposis has yet to be deciphered. It occurs due to fetal akinesia or decreased fetal movement in the utero or due to certain abnormalities either in the foetus or the mother. Certain conditions of distal arthrogryposis occur due to genetic abnormalities.

Movement within the uterus is essential for developing healthy joints and tissues. If the baby is unable to move within the uterus, the extra connective tissues develop into stiff and immobile joints. The longer the period of immobility, the degree of contracture is greater.

Maternal factors that cause arthrogryposis conditions –

• Lack of space in the uterus
• Improper shape of the uterus
• Trauma
• Less amniotic fluid
• Infection in the mother
• History of drug consumption

Defects within the fetus that cause arthrogryposis conditions

• Malformed Spinal Cord
• Issues in the Brain
• Connective tissue disorders – bones, ligaments, joint lining etc

The four main types of arthrogryposis are

Distal arthrogryposis

The type of arthrogryposis is noticed in the hands and the feet, which show a slightly limited range of motion.

Classic arthrogryposis

Classic arthrogryposis is characterized by muscle weakness and joint stiffness frequently. Almost all the joints are affected – the hands, wrists, elbows, shoulders, hips, feet, and knees. In the severest cases, even the jaw and the back of the child are affected.

Syndromic arthrogryposis

The patient with syndromic arthrogryposis has a speech disorder, breathing issues, and even difficulty in swallowing food. Syndromic arthrogryposis causes delayed development and affects the internal organs too. 

Amyoplasia arthrogryposis

The patient with amyoplasia arthrogryposis is identified by extended elbows, flexed wrists, internally rotated and inward drawn shoulders. Other conditions include flexed and stiff fingers, club feet. Amyoplasia is sporadic and often found in one of the monozygotic twins while it does not recur in families.

Types of Clubfoot noted in Arthrogryposis

Clubfoot can be one of the main deformities in babies born with arthrogryposis which is characterized by contractures, muscle weakness and multiple joint stiffness.

The three most distinguishing signs of clubfeet are:

• The presence of a tight Achilles tendon with the foot unable to get into a flat or a plantigrade position accompanied by drawn up position of the heel and a fixed plantar flexion of the ankle.
• Turning in of the heel or hindfoot i.e. adduction condition
• Turning under of the mid and the forefoot that gives the foot a kidney shape.

Classic Clubfoot

Classic clubfoot is relatively rigid and severe. The deformed foot will be smaller in size with the forefoot turning inwards while the heel will be pointing downwards.

Most orthopedists prefer to begin early treatment especially if detected in newborns, enabling them to take maximum advantage of the supple quotient of their body for best outcomes.

Equinocavus Clubfoot

This deformity is identified with a severe hindfoot equinus and deep transverse cavus when seen laterally while the dorsal view shows mild forefoot adductus.

Congenital vertical talus

It is a rare form of foot disorder identified with prominent heel/calcaneus and a round convex curved sole. Also known as rocker bottom flatfoot, it has an irreducible and rigid dorsal dislocation of the navicular on the talus.