Clinical features
Mutations in GMPPA cause a syndrome characterized by the combination of achalasia, alacrima, and neurological deficits.
This disorder shows many similarities with triple A syndrome which is characterized by achalasia, alacrima, and variable neurological deficits in combination with adrenal insufficiency.
Prevalence
So far, the prevalence of this disorder is still unclear.
Inheritance
This disorder is inherited in an autosomal recessive manner.