Related Experiment Video
Updated: Jul 3, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Triple A syndrome mimicking ALS
Maria Strauss1, Katrin Koehler, Manuela Krumbholz
1Department of Neurology, Martin-Luther-University, Halle, Saale, Germany.
Abstract:
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.
Related Concept Videos
Alzheimer Disease l: Introduction
Esophageal Achalasia
Myasthenia Gravis ll: Pathophysiology
Multiple Sclerosis l: Introduction
Huntington Disease l: Introduction
Alterations in Muscle Tone lll
