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Rashid Hospital Doctors congratulated for rare diagnosis.

Summary: The doctors at Rashid Hospital received international recognition from the Parkinson Magazine after they correctly diagnosed a prisoner with Huntington's disease - a hereditary disease with a prevalence of one in 30,000.

Compliments have been showered on the doctors of the neurology department at Rashid Hospital after they diagnosed a patient with a rare disease.

"The 37-year-old patient suffered from abnormal movement since the age of 31. Due to a lack of family history and hard evidence of neurological disease, he was determined a malinger, a person who pretends to have symptoms of mental or physical disorders for a motive," said Dr AbuBaker Al Madani, head of neurology department at Rashid Hospital.

Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. It affects the person's functional abilities and usually results in movement, thinking and psychiatric disorders. While medications are available to help manage the symptoms of Huntington's disease, treatments cannot prevent the physical, mental and behavioural decline associated with the condition.

However, in 2016, the patient was brought again because his symptoms progressed noticeably in the last year. He was found to suffer from mental function deterioration, dysartheria (difficulty articulation of speech), dysphagia (difficulty in swallowing), weight loss, bilateral abnormal asymmetric and involuntary movements affecting the face especially the lips and tongue in addition to distal limbs.

"The patient had brain MRI, which showed a general brain atrophy (the wasting away or decrease in size of an organ or tissue in the body) and severe atrophic changes in the basal ganglia especially the head of the caudate nucleus and that's when the Huntington disease was suspected and the genetic testing was ordered," said Dr Al Madani.

Following more tests, Huntington's disease was confirmed.

"After this case, we found that the fact for the prevalence of Huntington's gene is not known. It should be suspected in any young onset of abnormal movement of choreic forms and malingering should be the last diagnosis to be considered. We also found that family history can give a strong clue for the diagnosis," he concluded.

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Publication:Khaleej Times (Dubai, United Arab Emirates)
Date:Jun 18, 2017
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