Distal arthrogryposis type I

Distal arthrogryposis type I: Description, Causes and Risk Factors:Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.This disorder has a characteristic position of the hands [medially overlapping fingers, clenched fists, ulnar deviation of fingers, and contractures of the fingers (camptodactyly)] together with foot contractures. Contractures at other joints are variable. In addition to the contractures of the hands and feet, usually only knees and hips are involved and usually fairly mildly. There are no associated visceral anomalies, and intelligence is normal. Distal arthrogryposis type I has a relatively good response to physical therapy. It is inherited as an autosomal dominant trait, and the gene has been mapped to chromosome 9, specifically 9p22-q22.3.This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, a person with distal arthrogryposis type 1 has a parent and other close family members with the condition.Risk Factors:Nerve signals don't reach the baby's muscles because of problems with the baby's central nervous system (CNS).
  • There isn't enough room inside the womb for the baby to move. This may happen if the womb is not the typical shape or if amniotic fluid leaks out of the womb (oligohydramnios).
  • The baby's muscles don't form normally and are weak, or their tendons, bones or joints don't form normally.
  • Most families who have a child with arthrogryposis are not at greater risk for having another child with it. In about one-third of children with this condition, doctors do find a genetic cause. The families of these children may be at greater risk. Your child's doctor can explain what this means for your family.
Distal arthrogryposis type I is relatively rare. It has been estimated to occur once in every 3000 live births. However, many types of specific congenital contractures in a particular body area, such as clubfoot or dislocated hips, are much more common. At least one in every 200 infants is born with some form of congenital contracture or stiff joint. The life span of affected individuals depends on the disease severity and associated malformations.The prognosis depends on how severely affected an individual is and how many joints are involved. Some of the more severe cases may be associated with an early death due to sudden respiratory failure and difficulty breathing properly. The majority of individuals with distal arthrogryposis do very well after receiving the necessary therapies and sometimes surgery to correct severe joint contractions.Symptoms:Distal arthrogryposisVirtually all individuals with distal arthrogryposis are born with their hands clenched tightly in a fist. The thumb is turned inwards lying over the palm, called abduction. The fingers are also overlapping on each other. The majority of patients with distal arthrogryposis will also have problems with the positioning of their feet. Many patients will have some form of clubfoot, where the foot is twisted out of shape or position.In addition to the hand and foot involvement, a small percentage of patients will have a dislocation or separation of the hip joint as well as difficulty bending at the hips and tendency for a slight degree of unnatural bending at the hip joints. The knees may also exhibit similar problems of being slightly bent and fixed at that point. Even fewer individuals are born with stiff shoulders.Diagnosis:Your PCP make a diagnosis after a thorough medical history and careful physical examination.X-rays often confirm the diagnosis and are helpful when evaluating stiff or dislocated joints.Additional tests, including blood tests, muscle biopsies and other imaging studies, help doctors confirm the diagnosis.Treatment:The treatment for individuals with distal arthrogryposis type I is adjusted to the needs of the affected child. With therapy after birth to help loosen the joints and retrain the muscles, most individuals do remarkably well. The hands do not remain clenched an entire lifetime, but will eventually unclench. Sometimes the fingers will remain bent to some degree. Clubfoot can usually be corrected so that the feet can be positioned to be straight.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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