A 40-year-old male is brought to the clinic by his wife with the complaint of behavioral changes for the past few months. He is irritable and gets angry on trivial matters. Sometimes he screams in the middle of the night and remains restless. His wife has recently noticed that he is forgetting things and repeats the same question multiple times. For the past few weeks, he is also having abnormal movements of his body, more prominent in the arms and hands. Past medical history is unremarkable. His father died at the age of 28 years in a road traffic accident. His grandmother had similar symptoms after her retirement. He does not smoke, drinks alcohol, or uses illicit drugs. Physical examination reveals a restless ill-groomed man. He is having
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Chorea represents an abnormal, involuntary, irregular, abrupt, and dance-like movements. Behavioral changes vary from restlessness, irritability, aggressiveness, to depression, psychosis, and obsessive-compulsive behavior. Cognitive and memory disturbances occur later.
Pathophysiologically, HD occurs due to excessive cysteine-adenosine-guanine (CAG) trinucleotide repeats on chromosome 4. It leads to an abnormal Huntingtin protein, which accumulates within specific neurons resulting in neuronal death. Caudate nucleus and putamen are commonly affected. HD also exhibits anticipation i.e. the disease occurs early and is more severe for future generations. The length of CAG repeats increase with subsequent meiosis, hence, an increased CAG length is inherited by the progeny, resulting in more severe disease.
HD is diagnosed on clinical grounds with positive genetically proven family history. A genetic testing is advised if a family history is absent or not genetically proven. An MRI of the brain reveals caudate nucleus atrophy. MRI of the brain also excludes other conditions; the most important of which are stroke, multiple sclerosis, and
Chorea represents an abnormal, involuntary, irregular, abrupt, and dance-like movements. Behavioral changes vary from restlessness, irritability, aggressiveness, to depression, psychosis, and obsessive-compulsive behavior. Cognitive and memory disturbances occur later.
Pathophysiologically, HD occurs due to excessive cysteine-adenosine-guanine (CAG) trinucleotide repeats on chromosome 4. It leads to an abnormal Huntingtin protein, which accumulates within specific neurons resulting in neuronal death. Caudate nucleus and putamen are commonly affected. HD also exhibits anticipation i.e. the disease occurs early and is more severe for future generations. The length of CAG repeats increase with subsequent meiosis, hence, an increased CAG length is inherited by the progeny, resulting in more severe disease.
HD is diagnosed on clinical grounds with positive genetically proven family history. A genetic testing is advised if a family history is absent or not genetically proven. An MRI of the brain reveals caudate nucleus atrophy. MRI of the brain also excludes other conditions; the most important of which are stroke, multiple sclerosis, and