Objective:

To describe an unusual case of rapidly progressive early-onset ALS in a young woman presenting with urinary urgency preceding motor symptoms.

Background:

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder causing degeneration of upper and lower motor neurons, leading to weakness, atrophy, and respiratory failure. It typically presents between ages 40–70, with a median survival of 2–5 years. Early-onset ALS is rare, particularly in women, and atypical features may delay diagnosis.

Design/Methods:

Clinical history, neurological examination, imaging, and electro diagnostic studies were reviewed in a 27-year-old woman with progressive weakness.

Results:

The patient presented with seven months of progressive weakness beginning with acute left leg weakness leading to a fall and fracture, followed by recurrent falls and bilateral upper limb weakness. One week prior to admission, she developed dysphagia, dysphonia, nasal speech, and fatigue with speaking. She reported urinary urgency and urge incontinence beginning nearly a year before motor symptoms. Examination revealed spastic quadriparesis with scissoring gait, brisk reflexes, sustained clonus, fasciculations, and reduced tongue strength, with intact sensation and coordination. MRI of the brain and spine and CSF studies were normal. Nerve conduction studies showed mild right median neuropathy, and electromyography revealed widespread fasciculations, chronic denervation, and incomplete motor unit recruitment—fulfilling revised El Escorial criteria for definite ALS.

Conclusions:

This case highlights an atypical, aggressive early-onset ALS phenotype with rapid progression, early bulbar involvement, and urinary urgency. While genetic testing was not performed, early-onset ALS has been associated with SOD1, FUS, and TARDBP mutations. ALS should remain in the differential diagnosis for progressive motor weakness in young adults, regardless of age or atypical features. Early recognition, electro diagnostic confirmation, and multidisciplinary management are crucial for optimizing outcomes and quality of life.