Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
case_report · Level V
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Abstract
Triple A (3A) syndrome, a rare autosomal recessive disorder, is characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, achalasia of the cardia, alacrima, and variable autonomic and neurologic dysfunction. The gene responsible, AAAS, recently has been identified. We describe the neurologic phenotype of the first adult case of 3A syndrome presenting bulbospinal amyotrophy as the prominent sign in association with a homozygous nonsense mutation identified in the AAAS gene.
Medical subject headings
- Adrenal Gland Diseases
- Dry Eye Syndromes
- Esophageal Achalasia
- Mutation
- Proteins