Achalasia Microcephaly Syndrome

What is Achalasia Microcephaly Syndrome?

Achalasia Microcephaly Syndrome has only been reported in a few families and is extremely rare. It’s genetically acquired syndrome that is characterized by the combination of achalasia (with symptoms of coughing, difficulty swallowing, vomiting, failure to thrive and aspirations) and the symptoms of an abnormally small head size and its accompanying intellectual deficit. Probably due to small brain size. The syndrome appears in infancy.

What are the symptoms of Achalasia Microcephaly Syndrome?

Common symptoms of Achalasia Microcephaly Syndrome include the following:

• Head is significantly smaller than expected
• Pulmonary aspirations
• Intellectual deficit
• Coughing
• Dysphagia
• Vomiting
• Failure to thrive
• Frequent respiratory infections

What causes Achalasia Microcephaly Syndrome?

Achalasia Microcephaly Syndrome cause is not completely understood, but it is genetic and it is theorized that autosomal recessive inheritance is the inheritance pattern. In autosomal recessive inheritance, the patient inherits two mutated genes. Each parent passes along the gene, but are unaffected by the disease themselves. The parents are two carriers, they have one mutated gene, which is recessive and one normal gene for the disease that is dominant.

How is Achalasia Microcephaly Syndrome diagnosed?

Prenatal genetic testing can reveal Achalasia Microcephaly Syndrome.

What are the treatments for Achalasia Microcephaly Syndrome?

Treatment is focused on symptom control. There is no cure.

Where can I find out more about Achalasia Microcephaly Syndrome?

• NIH
• Orpha.net
• AccessAnesthesiology