Objective:

To describe a case of genetic myopathy due to valosin-containing protein (VCP) mutation.

Background:

Mutations in the valosin-containing protein (VCP) gene cause an autosomal dominant disorder known as VCP-associated multisystem proteinopathy (VCP-MSP). This disorder comprises a spectrum of conditions including inclusion body myopathy (IBM), frontotemporal dementia (FTD), Paget disease of bone, and amyotrophic lateral sclerosis (ALS). Patients can present with one or several of these conditions and symptoms often mimic other motor neuron diseases which can delay diagnosis.

Design/Methods:

Not Applicable

Results:

A 49-year-old woman presented with eight years of slowly progressive weakness. The weakness began in the thighs and shoulders and ultimately progressed to difficulty rising from a chair as well as having recurrent falls. By 2024, the patient developed weakness of her neck extensor muscles that caused intermittent head drop but she denied any dysphagia, dysarthria, or sensory changes. Her family history was significant for ALS in her mother, aunt, and grandmother, as well as IBM in her brother. Her neurological exam showed symmetric proximal weakness, intact sensation, and absent upper motor neuron signs. Her serum creatinine kinase and aldolase were normal. Panels for myositis and necrotizing myopathy were negative. Her EMG demonstrated a diffuse myopathic process. Genetic testing confirmed a pathogenic VCP mutation. Due to the current absence of curative treatment, management focused on supportive multidisciplinary care and genetic counseling. At a three-month follow-up, she remained stable but continued to experience exertional dyspnea and frequent falls.

Conclusions:

VCP-associated myopathy is an important differential consideration when presented with a strong family history of multiple neuromuscular disorders, such as ALS and IBM.