Achalasia microcephaly syndrome

In the achalasia-microcephaly syndrome, microcephaly, lack of talent and early signs of achalasia appear.

Achalasia itself is a neurodegenerative disorder that causes the death of nerve cells of the myenteric plexus. This leads to a massive restriction of the contractility of the esophageal muscles.

The molecular genetic cause has not yet been elucidated, but autosomal recessive inheritance is suspected in some cases. Since 1978, the syndrome has been described in 10 sporadic and sibling cases.