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Neurological Rehabilitation

Devastating ALS Variant Found Mid-Pregnancy: A Case Report

Saturday, October 25, 2025
12:00 PM - 1:30 PM MT
Location: Kiosk 6

    Primary Author(s)

  • Polly Creveling, MD

    Resident
    University of North Carolina Hospitals PM&R Program
    Chapel Hill, North Carolina

    • Co-Author(s)

  • MG

    Mina Gayed, DO

    Clinical Assistant Professor
    UNC Chapel Hill School of Medicine
    Chapel Hill, North Carolina

Disclosure(s):
Polly Creveling, MD: No financial relationships to disclose
Case Diagnosis: 29-year-old G4P1213 female with depression, PCOS, HTN, and preeclampsia developed worsening weakness following preterm delivery at 33 weeks due to HELLP syndrome.

Case Description or Program Description: Symptoms began at 20 weeks with left hip pain, quickly progressing to bilateral lower extremity weakness. Symptoms initially attributed to pregnancy or sciatica given unilateral nature. Postpartum, she developed weakness in all extremities.

Setting: She was transferred to acute inpatient rehab for unspecified motor neuron disease. Exam significant for diffuse hyperreflexia, fasciculations, weakness in all extremities, and ankle contractures.

Assessment/Results: MRI with enhancement of ventral nerve roots of the cauda equina. EMG demonstrated active and chronic denervation in all muscle groups, reduced CMAP amplitudes with preserved conduction velocities, and prolonged F-waves. CSF studies unremarkable. Eventually, genetic testing revealed FUS gene c.1574C>T (p.Pro525Leu) variant – consistent with pathogenic autosomal dominant ALS.

Discussion (relevance): Amyotrophic Lateral Sclerosis (ALS) is a progressive neurological disease affecting ~1.9/100,000 people annually. Patients present with muscle weakness, atrophy, and eventual death, with higher prevalence in men aged 40-70. Familial ALS accounts for 5-10% of cases. Misdiagnosis or late diagnosis increases the risk for complications, primarily due to respiratory problems. The incidence of ALS in pregnancy is extremely rare and poorly studied.

Conclusions: ALS diagnosis during pregnancy is extremely rare, with less than 2% of women diagnosed during or shortly after pregnancy. The disease can mimic common pregnancy-related symptoms including hip pain and sciatica, delaying diagnosis. Keeping neuromuscular disorders in the differential is crucial for early diagnosis, which can mitigate complications. This rare presentation highlights the importance of broad differentials in pregnancy-related neurological symptoms to mitigate and address complications of disease progression.