Journal
AMYOTROPHIC LATERAL SCLEROSIS
Volume 9, Issue 5, Pages 315-317Publisher
INFORMA HEALTHCARE
DOI: 10.1080/17482960802259016
Keywords
triple A syndrome; amyotrophic lateral sclerosis; AAAS gene
Categories
Funding
- Deutsche Forschungsgemeinschaft
Ask authors/readers for more resources
We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available