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Arthrogryposis Multiplex Congenita – Pictures, Treatment, Causes

What is Arthrogryposis Multiplex Congenita?

Contents

Arthrogryposis is a disorder that has a characteristic of having multiple contractures in the joint area. Some experts would describe it as a neuro musculoskeletal kind of disorder. It is a non-progressive congenital kind of disorder. It is otherwise known as the Arthrogryposis Multiplex Congenita. What happens to these persons is that they have joints which reveal stiffness, contractures, poor mobility and fatigue especially in the muscle area. Other experts would describe it as a heterogeneous kind of condition.

Arthrogryposis Image

Arthrogryposis Image

What symptoms present in Arthrogryposis?

Patients who are diagnosed with this kind of condition will experience or manifest the following symptoms:

  • Rigidity of the joint
  • Deformities which are commonly symmetric
  • Diminished deep tendon reflex
  • Atrophy
  • Joint dislocation either in the knees or hips
  • Limitation of the motion especially in the jaw
  • Craniofacial malformation
  • Respiratory problems which includes laryngeal and tracheal stenosis and clefts
  • Cardiac problems
  • Skin abnormalities such as the limbs in the distal portion may appear bluish in color or cold to touch
  • Lethargic
  • Sensory deficits
  • Abnormal tendon attachments
  • Decrease in the muscle mass
  • Pterygia or skin webs which can be found across the person’s joints
  • Skin may either be doughy, soft, extensible or thick
  • Nail defects
  • Scalp defects
  • There is a presence of indentation in the pretibial linear skin area
  • Craniofacial malformation
  • Syndactyly
  • Digits appears shortened
  • Radioulnar synostosis
  • Loss of vigor
  • Cleft palate
  • Feeding problems due to short gut
  • Presence of short umbilical cord
  • Hypertelorism
  • Pulmonary hypoplasia
  • Retardation of the growth of the patient
  • Fetal akinesia
  • Hernia either umbilical or inguinal
  • Scoliosis
  • Genital deformities such as microphallus or cryptorchidism
  • Flat nasal bridge
  • Internal rotation of the shoulders
  • Hemangioma
  • Trismus
  • Micrognathia
  • Clubfoot
  • Extension and pronation of the elbows
  • Absent patella
  • Dislocated radial heads
  • Pterygium
  • Taut skin

These are the common symptoms reported by patients who are diagnosed of having Arthrogryposis.

Arthrogryposis Multiplex Congenita Pictures

Hypertelorism Image

Hypertelorism as a symptom of Arthrogryposis

Syndactyly Image

Syndactyly as a symptom of Arthrogryposis

Micrognathia Image

Micrognathia as a symptom of Arthrogryposis

What Causes Arthrogryposis?

The exact cause of why Arthrogryposis occurs to some patients, are still unidentified. Although, some experts or researchers have provided mechanisms that may be the causative factor of this kind of disorder or disease condition such as:

  • There is a malfunctioning or malformation in the central nervous system, which is the most common etiological reason. Such malformation includes brain malformations, spinal muscular atrophy, spina bifida and the like.
  • There was exposure of the pregnant mother to harmful substances like alcohol, drugs such as phenytoin or Dilantin.
  • During pregnancy, there was a presence of chronic leakage of amniotic fluid or perhaps there was lower amount of amniotic fluid which leads to reduction of movement space for the fetus.
  • There was an inherited kind of neuromuscular disorder like myasthenia gravis, multiple sclerosis or perhaps myotonic dystrophy
  • There was a presence of infection during the pregnancy period such infections like rubeola or rubella which is otherwise known as German Measles
  • The mother, during her pregnancy period, experience fever of about 39 degree Celsius or 102.2 degree Fahrenheit for a longer period or perhaps she had an increase in her body temperature which was brought about by prolonged hot tub soaking which will then result to fetal hyperthermia or overheating which will eventually lead to the fetus to acquiring this kind of disease condition.
  • There is a presence of compromise with regards to the vascular areas of the fetus. Perhaps there is an impingement and such other factors which lead to this kind of vascular compromise.
  • There is a presence of decrease mobility or akinesia of the fetus which will lead to developing this kind of disease condition.

How to Treat Arthrogryposis Multiplex Congenita?

With regards to treatment that is done with patients who have Arthrogryposis, they are told that there is no reversal treatment once they are afflicted with this kind of disease condition. However, there can be improvement of the individual’s quality of life. You must take note that each person varies in the respond to the treatment provided or given. Hence, a combination of therapies would prove to be beneficial for anyone. Such therapies or treatment method which will lead to the improvement of this kind of disease condition includes:

Physical Therapy

This kind of therapy is vital in joint motion improvement as well as being able to avoid atrophy of the muscle. Patients who are diagnosed with either distal Arthrogryposis or amyoplasia are known to greatly respond to this kind of therapy. This kind of therapy includes mobility training, strengthening and stretching exercises which will be good in improving the range of motion and flexion which will lead to an increase in mobility.

Physical Therapy for a child with Arthrogryposis Image

Physical Therapy for a child with Arthrogryposis

Occupational Therapy

This kind of therapy includes splinting and casting of the joints which are affected. It includes training of the ADL as well as the skills that targets the fine motor areas. In addition to that, it also addresses the emotional and psychosocial implications of persons that have to live with the disability all through their lives.

Casting Image

Casting of the affected joints

Surgical Procedure or Therapy

There is a need for surgical procedure such as orthopedic surgery or surgical procedure which includes external or llizarov fixator or osteotomy and the like. The kind of surgical procedure done to each patient differs and will greatly depend on the condition as well as the assessment made by the physician or surgeon who is in charged.

Arthrogryposis Multiplex Congenita Prognosis

Patients who are diagnose with Arthrogryposis multiplex congenital should be advised to follow or consult their trusted family pediatrician or physician as soon as possible. Aside from that, it is advised that patients with Arthrogryposis multiplex congenital are encourage to allow their child to join activities that will be able to promote movement.

Despite the fact that this kind of condition is a severe kind, those who are diagnosed with Arthrogryposis multiplex congenital are taught to be independent in performing activities of daily living such as regular persons would often do.

The persons with Arthrogryposis multiplex congenital are engaged with therapies and sometimes surgical procedures so as they can be able to go about their day to day life. These persons with this kind of condition have normal speech and cognition and hence, there is a high degree of potential for reward, productivity as well as being independent in the real world. In addition to that, their life span is normal.

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