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Date of Award
Spring 2024
Degree Name
Master of Medical Science (Physician Assistant)
Department
Physician Assistant; College of Health Sciences
First Advisor
Jaime Shaffer
Abstract
Neurofibromatosis type 2-related schwannomatosis (NF2-SWN) is a rare genetic disorder characterized by growth of tumors throughout the nervous system. The damage caused by these tumors can be severe and debilitating, affecting quality of life and ultimately decreasing life expectancy. The average age of death for patients with NF2 is 36 years old, and over the course of the disease patients often have loss of hearing and balance, visual impairment, muscle wasting, and neuropathy.1 Accurate detection and timely intervention are essential for slowing speed of disease progression. Due in part to the rarity of the disease, providers are less likely to be familiar with NF2-SWN presentation, diagnosis, and management. Merker et al found that even among neurofibromatosis specialists, level of agreement about NF2-SWN guideline recommendations varies widely from 36% to 73%.2 This article aims to provide a concise and updated outline for recognition of symptoms/signs, diagnostic criteria, and treatment in patients with NF2-SWN.
Recommended Citation
Whitis, Maureen, "Neurofibromatosis type 2-related schwannomatosis (NF2-SWN): Outlining the History and Physical Exam, Diagnostic Criteria and Treatments" (2024). Capstone Showcase. 43.
https://scholarworks.arcadia.edu/showcase/2024/pa/43
Neurofibromatosis type 2-related schwannomatosis (NF2-SWN): Outlining the History and Physical Exam, Diagnostic Criteria and Treatments
Neurofibromatosis type 2-related schwannomatosis (NF2-SWN) is a rare genetic disorder characterized by growth of tumors throughout the nervous system. The damage caused by these tumors can be severe and debilitating, affecting quality of life and ultimately decreasing life expectancy. The average age of death for patients with NF2 is 36 years old, and over the course of the disease patients often have loss of hearing and balance, visual impairment, muscle wasting, and neuropathy.1 Accurate detection and timely intervention are essential for slowing speed of disease progression. Due in part to the rarity of the disease, providers are less likely to be familiar with NF2-SWN presentation, diagnosis, and management. Merker et al found that even among neurofibromatosis specialists, level of agreement about NF2-SWN guideline recommendations varies widely from 36% to 73%.2 This article aims to provide a concise and updated outline for recognition of symptoms/signs, diagnostic criteria, and treatment in patients with NF2-SWN.