Question

A 39-vear-old man has had abnormal and uncontrollable movements for the past 6 months, as well as forgetfulness, obsessions, and compulsions. His wife notes some mild personality changes as well. He has become somewhat more irritable and withdrawn. These movements are spontaneous, unpredictable, and have become almost continuous. Initially his wife thought he had become "fidgety," Abnormal behaviors as well as the extraneous movements have caused some social embarrassment. The patient's mother died in her fifties at a psychiatric hospital. He has no more information about her. Family history is otherwise unrevealing. Examination shows obvious chorea consisting of involuntary, nonrhythmic, and persistent jerky movements of the head, neck, and arms that continue during conversation. Memory is mildly diminished. He seems very distractible and has difficulty completing motor tasks. Neurologic exam is otherwise unremarkable. MRI of the brain shows atrophy of the heads of both caudate nuclei. Figure 177. Gross appearance of the lesion in a myelin stain. Atrophy of the caudate nucleus and putamen. Dilatation of frontal horn and cortical atrophy. Poirier-Gray- Feeaurolle 3rd ed

what is the diagnosis, prognosis, and treatment options?

what is the diagnosis, prognosis, and treatment options?

what is the diagnosis, prognosis, and treatment options?

Answer 1

Huntington disease is a neurodegenerative autosomal dominant trinucleotide repeat disease in which GABAergic neurons of the basal ganglia especially of the caudate nucleus and putamen are atrophied. It is clinically characterized by progressive unintentional choreoathetoid movements, subcortical type dementia, behavioral changes, and psychosis which originates in midlife.

Prognosis: The adult onset form is slower in its course and causes death in 14-15 years, whereas the juvenile form has a more rapidly progressive course, with death occurring in 7-8 years

No treatment is currently there for this disease.