Fawad Kaiser.
Genetic anticipation in Huntington`s disease.
Rawal Med J Jan ;29(2):92-3.

S, a 23 year old girl presented with a history of a fall 3 days ago which resulted in pain in the hip area radiating to the right leg. This was preceded with the feelings of being depressed for 3 weeks. She had a history of choreiform movements since she was 20 years old. She had a gradual onset of choreiform movements, which was reported to be progressing markedly. Other symptoms included irritability and emotional distress. S was born of normal full term delivery and had normal developmental milestones. She had a very significant family history. Her 38 year old cousin P (paternal uncle`s son), was suffering from HD. P was diagnosed as suffering from HD since he was 28 years old. It was reported that P had been manifesting symptoms of psychomotor agitation, depressive mood and sexually disinhibited behavior. S`s father was diagnosed suffering from HD when he was 53 years old. He died 3 years ago. The father was reported to have symptoms of psychomotor retardation, guilt feeling and anhedonia. S`s paternal grandmother and great grandmother also had a history of HD. Both her grandmother and great grandmother suffered from HD when they were in their late 50`s. S`s two paternal uncles were reported to have died from HD when they were 49 and 50 years old respectively. Both of them suffered from HD, which was diagnosed 5 years before they died. S had two other paternal uncles who were alive, one of them was reported to have been suffering form HD since he was 45 years old. There was no history of HD or any other neuro-psychiatric disorder in S`s maternal family. It was reported that HD had its onset in all four generations and the occurrence of HD was gradually regressing towards an earlier age with each generation. S was investigated and had marked caudate atrophy on MRI. She was treated with Haloperidol 1.5mg orally three times a day and Fluoxetine 20mg once a day, to which she made little improvement.

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