ARTHROGRYPOSIS


Introduction:

Arthrogryposis translated from the Greek, literally means ''curved or hooked joints''. It is defined as a non-progressive, congenital neuromuscular syndrome characterized by severe joint contracture, muscle weakness & fibrosis''

Prevalence:

Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, occurs in 1 out of every 3000 live births. Amyoplasia, a form of Arthrogryposis is characterized by fatty fibrous tissue replacement of the limb muscle, is the most common form (43%).

Classification:

  • There are more than 200 conditions in which multiple congenital contracture may be present. Roughly divided into 3 groups- Contracture of just arms & legs. Contracture & in addition other congenital anomalies for e.g. heart & intestinal defects, cleft palate. Contracture plus abnormality of brain growth & development.
  • Amyoplasia-replacement of muscles by fatty & fibrous tissue. Distal Arthrogryposis-Hereditary Neuromuscular Arthrogryposis-(club foot, wrist in extension, clubbed hands and thumb in palm ,internally rotated shoulders, elbows in extension & wrist in flexion).

Causes:

  • Hyperthermia of fetus
  • Peri-natal viral infection
  • Fetal vascular compromise
  • Septum of the uterus
  • Decreased amniotic fluid
  • Muscles and connective tissue abnormality.
  • Muscle defects-muscle fails to form or function normally or undergo a degenerative process in the womb.
  • Neurological deficit --absent, abnormal or malfunctioning nerves.
  • Abnormal connective tissue or joints which limit movement.
  • Decreased space in the womb in which fetus can move for example as in case of twins.
  • Decreased fetal movement is associated with neurogenic & myopathic disorders. It is believed that the neuropathic form of Arthrogryposis involves deterioration in the anterior horn cell leading to muscle weakness & fibrosis.

Early Diagnosis:

Diagnosis can be made on the basis of associated symptoms and the curvatures of the joints which make it predictable.

Role of investigations:

Although investigation can not rule out Arthrogryposis but they help in confirmation of diagnosis & to rule out other associated conditions.

  • Investigation on the CNS.
  • A head CT scan.
  • A muscles biopsy.
  • X-rays of spine, pelvis, chest
  • X-rays of limbs involved.

Associated problems:

  • Scoliosis.
  • Lung hypoplasia, leading to respiratory failure / problems.
  • Growth retardation.
  • Chest infection.
  • Feeding & speech problems.
  • Mid-facial haemangioma.
  • Facial & jaw deformity.
  • Abdominal hernias.
  • Arthritis which later becomes a significant problem.
  • Cognition & speech are usually normal.


Clinical manifestations:

Shoulders: internal rotation deformity. Elbow: external rotation deformity & pronation. Wrist: volar & ulnar deviation. Hand: finger in fixed flexion & thumb in palm deformity. Hip: flexion, abduction & external rotation often dislocated. Knee: flexion deformity. Foot: clubfoot deformity.

Arthrogryposis is typically symmetrical & involves all four extremities with some variation seen.

  • Flexed and dislocated hips, clubfoot, extended knees, flexed elbows, flexed wrist & fingers.
  • Abducted & externally rotated hips, flexed knees, clubfeet, internally rotated shoulders, extended elbows, pronated forearm & flexed & ulnarly deviated wrists.

Treatment and management techniques:

It is a challenging problem. Treatment is being supervised under 3 headlines:

  • Medical
  • Surgical
  • Developmental / physical / Occupational therapy.

  • 1. No medical treatment is known.

    2. Surgery should be viewed as a supportive measure to other forms of treatment, when they have achieved their maximum results. Surgical care usually provided to those patients in whom no other treatment can augment until, & unless surgery is being performed. For e.g. in some cases, tendon transfers have been done to improve muscle function. Orthopedic surgery usually needed to correct the clubfoot, hernia repair & correction if unilateral hip dislocation occurs.

    3. Developmental therapy / Physiotherapy / Occupational therapy It includes stretching (casting & splint program), strengthening, mobility program, and training in activities for daily living skills.

    • Developmental therapy / Occupational therapy / Physiotherapy have proven very beneficial in improving strength & range of motion.
    • Parents are encouraged to become active participants & continue the exercise at home
    • Splints can be made to augment the stretching exercises & to increase the range of motion of joints.
    • Casting is often used to improve foot position.
    • Some type of removal splint (perhaps a bivalve cast) may be used on knees & feet so that the joints can be moved & muscles exercised periodically. In some cases, merely wearing a splint at night may be sufficient.
    • Light weight orthosis can be used. Right positioning should be given.
    • Improvement of hand deformities is difficult because there is less muscles.


    Prognosis:

    Children with Arthrogryposis are very rewarding to treat because they have the characteristics of being highly motivated & great achievers.

    We have to see the remaining possibilities, & should work to enhance it & achieve good results as these children are very enthusiast and have lot of capability.

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