Alacrima, Achalasia and Intellectual Disability Syndrome
Autosomal recessive
Caused by changes in both copies of GMPPA, a gene that regulates the production of the sugar building blocks used to modify proteins. The changes can stop the gene working, which raises levels of GDP-mannose. Unlike the similar triple A syndrome, it does not affect the adrenal glands.
Signs and symptoms
Absent or reduced tears (alacrima) from infancy, achalasia causing swallowing difficulty, and intellectual disability. Delayed development and gait abnormalities have been reported. Muscle weakness, autonomic dysfunction and seizures have also been reported in some people.
What a diagnosis changes
Achalasia has needed surgical treatment in reported cases, and eye care is needed because tears are absent. Developmental and educational support, with neurological follow-up, help with learning and movement. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Genes analysed
Also known as
AAMR; alacrima, achalasia, and mental retardation syndrome; GMPPA-CDG
