Clinical Reasoning: A 60-Year-Old Woman With Rapidly Progressive Muscle Weakness and Ophthalmoparesis.

Neurology

From the Department of Neurology (T.W.), Mayo Clinic, Rochester, MN; and Neuropathology Division (K.A.J.), Department of Pathology, and Neuromuscular Division (N.L.G.), Department of Neurology, Duke University Medical Center, Durham, NC.

Published: August 2024

The clinical assessment of patients with proximal muscle weakness represents a frequent yet intricate challenge. We present the case of a 60-year-old woman who experienced a progressive, symmetrical weakness in proximal limbs and bulbar muscles over 6 months. Notable clinical findings included bilateral ophthalmoparesis; widespread muscle atrophy; and pronounced weakness in craniobulbar, cervical, and proximal muscles, more severe than in distal ones. We elucidate a methodical diagnostic approach, focusing on constructing a comprehensive differential diagnosis and identifying potential causes of proximal muscle weakness. Special emphasis is placed on exploring the etiologies in cases presenting with both progressive muscle weakness and ophthalmoparesis. We further describe the role of muscle biopsy results and their integration with genetic testing outcomes.

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Source
http://dx.doi.org/10.1212/WNL.0000000000209708DOI Listing

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