GENETIC TESTING IN DIAGNOSIS ELUCIDATION
Abstract:
The genetic test confirms or invalidates a genetic disease, playing a crucial role in the diagnosis and care of the patient. We present the case of a 38-year-old patient who has experienced attention, concentration, memory deficiencies and increased irritability 5 years ago. Their evolution is associated with involuntary movements of the upper and lower limbs. Because the onset of the symptomatology coincided with the passing of the patient through a very stressful period, it was decided to admit her to the Psychiatric department on numerous occasions. Extensive etiopathogenic evidence led to the confirmation of Huntington’s disease diagnosis following the genetic test (48 CAG repeats at the level of one allele).
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