(Kiosk 1) Rethinking the Diagnostic Criteria for Amyotrophic Lateral Sclerosis: A Case Report

Case Diagnosis: A 68-year-old male with worsening generalized weakness and recurrent falls was diagnosed with lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Case Description or Program Description: Patient presented with generalized weakness and recurrent falls. Examination was notable for lower motor neuron (LMN) symptoms, including bilateral thenar, hypothenar, and dorsal interossei atrophy, and visible fasciculations in the bilateral triceps. Reflexes were 0/4 and strength 3/5 throughout all extremities. However, upper motor neuron (UMN) symptoms were absent. MRI showed small vessel disease within the brain, and mild spondylosis without nerve impingement or cord compression within the cervical spine.

Setting: Tertiary care academic hospital.

Assessment/Results: Nerve conduction studies were unremarkable. Electromyography (EMG) showed findings of active denervation including fibrillations, positive sharp waves, and fasciculations diffusely within the cervical, lumbosacral, and bulbar muscles. Patient was referred for enrollment in an ALS clinical trial but opted for hospice care status instead; he subsequently passed away 4 weeks post-hospitalization.

Discussion (relevance): The diagnostic criteria for ALS has evolved in recent years to be more inclusive for enrollment in clinical trials. Based on prior Awaji-Shima and El Escorial criteria, this patient did not have ALS due to the absence of UMN findings; rather, a LMN disorder such as progressive muscular atrophy was more likely. However, new diagnostic criteria called the Gold Coast criteria does not require UMN findings to diagnose ALS provided at least 2 body regions have LMN findings. The LMN dysfunction may be determined by examination findings, such as muscle atrophy, or EMG findings, such as evidence of both chronic and active changes. From this new criteria, ALS was diagnosed, allowing this patient to enroll in an ALS clinical trial if desired.

Conclusions: The Gold Coast criteria is more inclusive than previous guidelines allowing more individuals to be enrolled in ALS-specific clinical trials for potential treatment.