Moyamoya disease with early-onset achalasia

Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.

Also known as: moyamoya 6 with achalasia, MYMY6, Moyamoya disease 6 with achalasia

163 clinical trials for this condition and its sub-types.