Chameleons in motor neuron disease – atypical clinical variants we cannot afford to miss (case presentations)
Hanna-Maria Dragos, Department of Clinical Neurosciences, University of Medicine and Pharmacy “Iuliu Hatieganu”, Cluj-Napoca, Romania
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that selectively affects upper and lower motor neurons and is fatal 3–5 years after onset – a description which suggests a homogenous clinical presentation of ALS. However, clinical, electrophysiological and genetic studies demonstrated that there is significant variability in the phenotypic expression of ALS with some important chameleon-like presentations and considerable variation in the clinical course.
Here, we present two cases of ALS with atypical clinical pictures that posed a diagnostic challenge and needed an extensive work-up. Furthermore, we discuss how unusual clinical characteristics could provide insights into the pathology, the disease progression and the development of therapeutic strategies in ALS.
Lack of confidence about such variability in clinical presentations and the importance of an extensive differential diagnosis has the potential to exacerbate diagnostic delay in ALS and impede timely care planning which is essential to maximizing quality of life in this disabling disease.
Short Bio
I am a third-year neurology resident at the Emergency County Hospital of Cluj-Napoca and volunteer at RoNeuro Institute for Neurological Research and Diagnostic. I have a master’s degree in Clinical Pharmacology and an ongoing master’s degree in Public Health. I am interested in cerebrovascular and neurodegenerative diseases as these are the most challenging fields in neurology in terms of early diagnosis, therapeutic management and neurorehabilitation. Also, I am enthusiastic to learn about the applications of modern technology in neuroscience such as quantitative EEG or machine learning algorithms.
WORK EXPERIENCE
Neurology Resident, Clinical Recovery Hospital [ 31/01/2020 – Current ]
Cluj-Napoca, Romania
Volunteer
RoNeuro Institute for Neurological Research and Diagnostic [ 10/2017 – Current ]
Cluj-Napoca, Romania
EDUCATION AND TRAINING
Master Degree in Public Health
“Babes-Bolyai” University of Cluj-Napoca [ 2020 – Current ]
Cluj-Napoca (Romania)
Master Degree in Clinical Pharmacology
“Iuliu Hațieganu” University of Medicine and Pharmacy [ 2018 – 2020 ]
Cluj-Napoca (Romania)
Medical Doctor
“Iuliu Hațieganu” University of Medicine and Pharmacy [ 2012 – 2019 ]
Cluj-Napoca (Romania)
Bachelor in Communication Sciences. Journalism
“Babes-Bolyai” University of Cluj-Napoca [ 2013 – 2017 ]
Cluj-Napoca (Romania)
