600 Section - Clinical and Functional Clues to Motor Neuron Disease in a Patient With Long-Standing Bulbar Symptoms: A Neurorehabilitation-Based Case Report

Case Diagnosis: Bulbar-onset neuromuscular disorders often present with subtle early manifestations that delay diagnosis. Neurorehabilitation provides a unique functional perspective that can guide timely identification.

Case Description: A 55-year-old man with a 10-year history of intermittent dysphonia and mild oropharyngeal dysphagia was referred after developing progressive proximal weakness, predominant in lower limbs. Examination showed broad-based gait, frontal alopecia, masseter atrophy, lingual fasciculations, absent gag reflex, gynecomastia, generalized hypotrophy, proximal weakness, and clinical fasciculations. Reflexes were absent in all extremities except for preserved radial reflexes.

Discussions: CK was mildly elevated (399 U/L). MRI revealed cervical and lumbar canal stenosis without intracranial lesions. Electromyography showed active denervation in bulbar, cervical, thoracic, and lumbosacral regions, with a neuropathic motor unit pattern compatible with motor neuron disease. Extended exome sequencing was requested.

Conclusions:

Neurorehabilitation played a central role in recognizing red flags by integrating functional and electrodiagnostic findings, guiding early diagnostic orientation in suspected motor neuron disease.