Scientific Online Resource System

Scripta Scientifica Medica

Diagnostic challenges in a patient with cognitive and motor disturbances: is it Huntington's disease?

Stela Ganeva Atanasova, Ivan Nikolov Dimitrov, Sevdzhan Osman Osman, Ara Kaprelyan, Kalina Venelinova Drenska

Abstract

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and there is no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50% chance of inheriting the faulty gene. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10- to 25-year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications. Everyone has the gene that causes HD, but only those that inherit the expansion of the gene will develop HD and perhaps pass it on to each of their children. Every person who inherits the expanded HD gene will eventually develop the disease. Over time, HD affects the individual’s ability to reason, walk and speak. Hereby, we describe the case of a 35-year-old patient with HD presenting with cognitive and motor disturbances to underline the diagnostic challenges and differential diagnostic options.

 


Keywords

Huntington’s disease, cognitive, motor disturbances

Full Text


References

Walker FO. Huntington's disease. Lancet. 2007; 369(9557):218-28. doi: 10.1016/S0140-6736(07)60111-1.

McColgan P, Tabrizi SJ. Huntington's disease: a clinical review. Eur J Neurol. 2018. 25(1):24-34. doi: 10.1111/ene.13413.

Roussakis AA, Piccini P. PET Imaging in Huntington's Disease. J Huntingtons Dis. 2015. 4(4):287-96. doi: 10.3233/JHD-150171.




DOI: http://dx.doi.org/10.14748/ssm.v51i1.6210

Refbacks

About The Authors

Stela Ganeva Atanasova
Medical University of Varna
Bulgaria

Department of Neurology and Neuroscience, Faculty of Medicine;

First Clinic of Neurology, St. Marina University Hospital, Varna, Bulgaria

Ivan Nikolov Dimitrov
Medical University of Varna
Bulgaria

First Clinic of Neurology, St. Marina University Hospital, Varna, Bulgaria;

Department of Nursing, Sliven Affiliate

Sevdzhan Osman Osman
Medical University of Varna
Bulgaria

First Clinic of Neurology, St. Marina University Hospital, Varna, Bulgaria

Ara Kaprelyan
Medical University of Varna
Bulgaria

Department of Neurology and Neuroscience, Faculty of Medicine;

First Clinic of Neurology, St. Marina University Hospital, Varna, Bulgaria

Kalina Venelinova Drenska
Medical University of Varna
Bulgaria

Department of Neurology and Neuroscience, Faculty of Medicine;

First Clinic of Neurology, St. Marina University Hospital, Varna, Bulgaria

Font Size


|