Achalasia microcephaly
Achalasia microcephaly (pronounced: ah-ka-LAY-zee-uh my-kro-SEF-uh-lee) is a rare genetic disorder characterized by the combination of microcephaly, a condition where the head circumference is significantly smaller than average, and achalasia, a disorder affecting the ability of the esophagus to move food toward the stomach.
Etymology
The term "achalasia" originates from the Greek words "a-" meaning "without" and "chalasis" meaning "relaxation". "Microcephaly" also has Greek roots, with "micro-" meaning "small" and "-cephaly" referring to the head.
Symptoms
Individuals with achalasia microcephaly typically present with dysphagia (difficulty swallowing), regurgitation of undigested food, and chest pain. Microcephaly in these individuals is often associated with intellectual disability and developmental delay.
Causes
Achalasia microcephaly is caused by mutations in the NOLA1 gene. This gene provides instructions for making a protein involved in the assembly of a cellular structure called the nucleolus. The exact mechanism by which mutations in the NOLA1 gene lead to the symptoms of achalasia microcephaly is not yet fully understood.
Diagnosis
Diagnosis of achalasia microcephaly is based on clinical examination, imaging studies such as barium swallow and esophageal manometry, and genetic testing to identify mutations in the NOLA1 gene.
Treatment
Treatment of achalasia microcephaly involves managing the symptoms of both achalasia and microcephaly. This may include medications, botulinum toxin injections, or surgery to improve esophageal function, and supportive therapies such as physical, occupational, and speech therapy to address developmental delays associated with microcephaly.
See also
External links
- Medical encyclopedia article on Achalasia microcephaly
- Wikipedia's article - Achalasia microcephaly
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