Navajo Familial Neurogenic Arthropathy: A Rare but Serious Problem

This report from the Shriners Hospitals for Children in Salt Lake City is the first to discuss the orthopedic problems shared by children with a condition called Navajo familial neurogenic arthropathy.

It’s a rare problem but one that can have serious consequences for the affected child. Obviously, it is found among people of the Navajo Native American group. This tribe lives in the southwest area of the United States in Arizona, New Mexico, and Utah. The term familial tells us the problem is inherited but the exact gene or genetic problem is still unknown.

The symptoms are similar from case to case. That’s what the name neurogenic arthropathy is all about — the classic symptoms seen in each of these cases. Neurogenic refers to the loss of sensation to deep pain. Without that protective response, the child can develop joint deformities and problems with limb alignment (especially in the legs). Arthropathy is another term to mean joint disease.

In this report, the authors use two cases of children affected by Navajo familial neurogenic arthropathy to show us what happens to patients with this condition. Although the focus is on the orthopedic (bone and joint) problems faced by these children, there are other problems. Anhidrosis (inability to sweat) is one of those problems. These children can’t tolerate high temperatures. And this heat intolerance is made worse by the fact that they live in a hot, dry desert climate.

Both children in the study appeared normal at birth and during the early years of life. There have never been any issues with cognition or mental capacity. But an accident at age five for one patient and symptoms of suffering in the heat for the second patient brought them into the hospital for examination. A closer look at the child’s problems led to a more thorough examination and tests resulting in a final diagnosis of Navajo familial neurogenic arthropathy.

Each child was treated according to his injuries or deformities but the results were disappointing. The first child fell out of a truck and broke his leg and went on to develop a severe knee deformity, joint infection, and almost died from a blood infection. He ended up having many operations and was in intensive care for a long time before going home. The second child also developed knee problems that resulted in severe destruction of the joint called Charcot arthropathy.

Both children have been treated conservatively without any further surgeries. They have developed deformities of the spine and arms in addition to the problems already present in the legs. Both use a wheelchair now with a slow decline in function as time goes by. The results in both cases mirror what has been reported for other children with Navajo familial neurogenic arthropathy.

The authors recommend the following for anyone with this disorder: