Duane anomaly-myopathy-scoliosis syndrome

Duane anomaly-myopathy-scoliosis syndrome is a rare disorder described in one pair of siblings. People with this condition show bilateral Duane anomaly type 3, which affects eye movement and causes problems with eye abduction and adduction, globe retraction, and a narrowing of the eye opening. They also have severe early-onset scoliosis, meaning a strong curvature of the spine, along with a congenital myopathy that includes low muscle tone (hypotonia) without significant muscle weakness. The syndrome is also marked by delayed motor development and short stature, but intellectual development is normal. These signs together form a consistent picture that helps doctors recognize the condition. The combination of these findings distinguishes this syndrome from similar conditions that do not show some of these features, such as short stature, eye movement problems, or muscle issues.

Common symptoms in people with this condition include problems with eye movement such as difficulty moving the eyes inward and outward, eye retraction, and a narrowing of the eye opening. In addition, severe early-onset scoliosis, low muscle tone without notable muscle weakness, delayed motor milestones, and short stature are seen.

This syndrome is most likely inherited in an autosomal recessive manner. This means that both parents might carry a copy of the altered gene, and the condition may appear when a child receives two copies of the gene. However, specific genes have not been identified for this condition.

Management of the condition often involves addressing the individual features. For example, surgery is necessary to manage severe scoliosis. Other symptoms are managed with supportive care, although detailed treatment guidelines for all aspects of the syndrome have not been well established.

The overall outlook for people with this condition depends largely on the severity of the visual problems caused by the Duane anomaly. While intellectual development is normal and many features can be managed, the degree of visual handicap may impact daily functioning.

Information about ongoing research and future studies is currently limited for this condition.