Treatable cervical mimics of motor neuron disease: a case series

Abstract

Background: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder affecting upper and lower motor neurons. Many conditions may mimic ALS, especially cervical spine pathology. Recognizing these mimics is crucial, since some of them are treatable. Objective: To describe four clinical cases of different cervical spine pathologies mimicking ALS. Methods: We retrospectively reviewed four patients referred to a neuromuscular clinic with a motor neuron disease based on clinical and electrophysiological findings. Results: Case 1: A 24-year-old male with a prior cranial gunshot with a projectile lodged in the right-side of the midbrain and a Holmes tremor in the same side of the injury. Presented with a progressive weakness of the left upper limb with a anterior horn involvement isolated in the Electromyography. Angiography revealed a craniocervical arteriovenous fistula. He underwent embolization, resulting in clinical stabilization. Case 2: A 38-year-old woman presented with 20-year history of slowly progressive, painful distal weakness and atrophy confined to the left upper limb, accompanied by brisk reflexes and urinary incontinence. ENMG showed anterior horn involvement. Cervical MRI revealed C4–C6 spinal stenosis. There was minimal progression and stable ENMG findings. The absence of clear disease progression made ALS unlikely, and the condition was attributed to cervical stenosis. Case 3: A 45-year-old man presented with a 5-year history of progressive bibrachial amyotrophy. His history included prior polytrauma from a car accident and a recent spontaneous bilateral subdural hematoma. ENMG showed anterior horn involvement confined to the upper limbs. Brain MRI suggested intracranial hypotension, and CT myelography identified a CSF leak at T10–T11. Surgical repair led to clinical stabilization, supporting the diagnosis of a spinal CSF fistula. Case 4: A 15-year-old male developed distal weakness in the right upper limb, followed by involvement of the left upper limb. Physical examination revealed weakness and atrophy of the right intrinsic hand muscles, with milder involvement of the left side. ENMG demonstrated anterior horn involvement. Cervical MRI showed dynamic cord compression consistent with Hirayama disease. He underwent C4–C6 cervical arthrodesis, with clinical stabilization. Conclusion: Cervical pathology mimicking ALS includes not only cervical stenosis but also other rare diseases. Important diagnostic clues include age at symptom onset, history of trauma, pain, sphincter involvement, focal deficits, and specific imaging findings. Recognizing these features is essential, as some mimics are treatable.