Moyamoya disease with early-onset achalasia

Moyamoya disease with early-onset achalasia is an exceedingly rare neurological disorder that has been reported in only a few families. It is inherited in an autosomal recessive pattern and is characterized by early onset achalasia, which usually presents during infancy, along with severe changes in the brain’s blood vessels that are similar to those seen in moyamoya disease. Other features that may be seen include high blood pressure, episodes where fingers or toes turn white or blue (Raynaud phenomenon), and a mottled skin appearance (livedo reticularis). This summary is based on the limited information available from current reports.

People with this condition often experience early onset achalasia, which affects the esophagus and makes swallowing difficult from infancy. They may also have signs related to changes in the brain’s blood vessels, such as possible stroke-like events. In addition, features like high blood pressure, Raynaud phenomenon, and a mottled skin appearance have been reported.

This disorder is inherited in an autosomal recessive manner, meaning that a child must receive a copy of the altered gene from each parent to be affected. The gene known to be associated with this condition is GUCY1A1. Genetic factors play a key role in its development.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.