Arthrogryposis / Arthrogryposis Multiplex Congenita (AMC) is a congenital neuromuscular syndrome characterized by severe joint contracture, muscle weakness & fibrosis. It is considered as non progressive in nature, but often it changes as the child grows

1 out of every 3000 live births

Clinical manifestations

  • Multiple joints are fused. Mostly joints are in flexed, pronated, abducted and externally rotated position.
  •  Multiple deformities at face, limbs, spine and head
  •  Facial deformities include asymmetrical face, flat nasal bridge and malformed jaw
  •  Limbs deformities in the form of shortening, webs, absent patella, and dislocated hips
  •  Deformities like scoliosis, genital deformities and hernia are also common
  •  Males are more affected in X-linked recessive disorders; otherwise, females and males are equally affected
  •  Mentally normal, speaks normally

Types / Kinds of AMC
More than 200 varieties of AMC have been reported. The most common type is amyoplasia with more than 43% of total reported cases. Grossly, AMC has been categorized as

  • Amyoplasia
  • Distal Arthrogryposis
  • Ptergium syndrome

Associated disorders with Arthrogryposis
Numerous associated problems have been observed which require special attention.

  • Seizure disorder
  • Intellectual disability
  • Growth retardation
  • Scoliosis (Spine deformity)
  • Lung hypoplasia, leading to respiratory failure / problems
  • Recurrent chest infection
  • Mid-facial haemangioma
  • Arthritis which later becomes a significant problem
  • Feeding difficulties

Causes / etiology of Arthrogryposis
No single cause for arthrogryposis has been established. It can be due to varied reasons such as

  • Decreased amniotic fluid, decreased fetal movements
  • Peri-natal viral infection
  • Hyperthermia of fetus
  • Fetal vascular compromise
  • Septum of the uterus
  • 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.

Diagnosis Making / Early Diagnosis
There is no specific prenatal test available which can confirm the presence of AMC in a fetus but routine ultrasound can detect the joint abnormalities. Diagnosis is made on the basis of associated symptoms and the curvatures of the joints which is obvious at birth. Muscle biopsies and EMG are very common tests. Numerous X-rays are done to ascertain the limitation of different joints
Treatment and Management of Arthrogryposis
Treating a child with AMC is a challenging job. The whole process of habilitation can be classified as

  • Medical Management
  • Surgical Management
  • Habilitation Therapies

Medical Management
There is no specific medicine available to cure AMC but the associated medical conditions are successfully treated with the help of medications. Medication is required for recurrent chest infection, seizures, pain, arthritis, etc

Surgical Management
Surgery should be viewed as a supportive measure to achieve 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 of hip dislocation if any.

Habilitation therapies
The three major goals of habilitation therapies are: Preventive measures; Functional ability and Developmental milestones. The major components of habilitation are

  • Developmental therapy / Physiotherapy / Occupational therapy
  • Postural Aids
  • Orthoses
  • Mobility Aids
  • Speech therapy
  • Special education

Role of Complementary and Alternative Medicines in the management of Arthrogryposis
Homeopathic, Ayurvedic, Unani and herbal medicines are being used to treat different associated disorders successfully. Acupuncture / Acupressure / Yoga is also being tried to care the joints and muscles.

Role of Regenerative Medicines in the management of Arthrogryposis
Hyperbaric oxygen therapy has no place as AMC is not due to hypoxia or oxygen deficiency in the brain. The role of stem cell therapy is to be explored.  

Prognosis and employment opportunities
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.
Mild to moderate cases with Arthrogryposis can lead productive lives if they are treated well. Due to presence of intelligence, they are very good with academics and avail good job opportunities

If you know someone with Arthrogryposis and want us to help him / her, please contact us
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