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438 - Insidious progression of weakness in GNE myopathy, from frequent falls to complete caregiver dependence: A Case Report

Friday, February 28, 2025

5:00 PM - 6:30 PM MST

Presenting Author(s)

YC

Yelim Chung, MD

Resident Physician
NYP Columbia-Cornell Rehabilitation Medicine
Long Island City, New York, United States

Co-Author(s)

LC

Lorna Collins, MD

Resident Physician
NYP Columbia-Cornell Rehabilitation Medicine
Brooklyn, New York, United States
SK

Sohyun Kang, MD

Resident Physician
NYP Columbia-Cornell Rehabilitation Medicine
NEW YORK, New York, United States

Corresponding Author(s)

AB

Akinpelumi Beckley, MD

Assistant Professor of Rehabilitation and Regenerative Medicine at CUMC
Columbia University Medical Center Department of Rehabilitation and Regenerative Medicine
New York, New York, United States

Case Diagnosis: GNE myopathy

Case Description: A 52-year-old female presented with a 20-year history of progressive weakness and functional decline. Her symptoms began at age 33 with bilateral foot weakness and frequent falls. She developed progressive weakness involving proximal thighs and upper arms and by age 40, she became dependent on a wheelchair for mobility. Genetic testing revealed two pathologic variants in the GNE gene, confirming GNE myopathy. On initial presentation to the rehabilitation clinic, exam revealed flaccid patchy weakness throughout all extremities except for the quadriceps. She was fully dependent on her family for all ADLs. She was referred to occupational therapy for hand splinting and a mobility clinic for evaluation for a power wheelchair.

Discussions: GNE myopathy, also known as rimmed vacuole distal myopathy, is a rare autosomal recessive muscle disease due to mutations in the GNE gene. Typical onset is around 20-40 years of age with vague symptoms such as lower extremity weakness, falls, gait instability. Weakness begins in the distal lower extremities and progresses proximally, with unique sparing of the quadriceps. Upper extremity involvement often presents 5-10 years after disease onset, presenting as grip or scapular weakness. Progressive functional deterioration often leads to wheelchair use and full dependence on caregivers 10-20 years after onset. Diagnosis is largely clinical, however can be confirmed with characteristic findings of atrophic fibers and rimmed vacuoles on muscle biopsy and the presence of GNE mutations.

Conclusions: GNE myopathy is a rare, inherited muscle disease that presents in adulthood with distal leg weakness followed by gradual involvement of proximal lower and upper extremities. Progression of the disease is clinically variable however most patients require wheelchair use and full dependence on caregivers by 10-20 years after diagnosis. Given the progressive nature of the disease as well as its complex functional needs, multidisciplinary care with early rehabilitation involvement is essential.