Achalasia microcephaly

Achalasia microcephaly is a rare genetic disorder characterized by the combination of microcephaly, a condition where the head circumference is significantly smaller than normal, and achalasia, a disorder affecting the ability of the esophagus to move food toward the stomach.

Symptoms

The primary symptoms of achalasia microcephaly include microcephaly, achalasia, intellectual disability, and growth retardation. Other symptoms may include seizures, spasticity, and hyperreflexia.

Causes

Achalasia microcephaly is caused by mutations in the AAAS gene. This gene provides instructions for making a protein called ALADIN, which is involved in nuclear pore complex assembly. Mutations in the AAAS gene disrupt the function of ALADIN, leading to the symptoms of achalasia microcephaly.

Diagnosis

Diagnosis of achalasia microcephaly is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include genetic testing, neuroimaging, and manometry.

Treatment

Treatment of achalasia microcephaly is symptomatic and supportive. This may include medication, surgery, physical therapy, and/or occupational therapy. Individuals with this condition may require regular follow-up with a team of specialists.

Prognosis

The prognosis for individuals with achalasia microcephaly varies. Some individuals may have a normal lifespan with appropriate management, while others may have a shortened lifespan due to complications of the disorder.

See also

• Microcephaly
• Achalasia
• AAAS gene
• Genetic disorder

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