This name actually originated from the name, Azores, for a group of nine Portugese islands where the disease is more common. It causes impaired brain functioning, vision problems and loss of muscle control. This disease has other names too, like: Machado-Joseph disease, Joseph disease, and spinocerebellar ataxia type III, but I think Azorean is still the best :)
Azorean disease can be classified into 3 types according to the age of onset and also the specific physical syptoms. Type 1: the age of onset is usually before 25 and the person experiences extreme muscle stiffness and rigidity. Type 2: the age of onset is in the mid-30s and the person loses the ability to coordinate muscles, resulting in the inability to walk (aww...wheelchair bound). Type 3: the age of onset is 40 or later and the main symptoms are weakness and the loss of sensation in the legs.
The symptoms of Azorean disease is actually caused by loss of brain cells and the impairment of neurological connections in the brain and spinal cord. All these are believed to be caused by the production of a destructive protein from a mutated gene (haha, reminds me of X-men), aren't all these chim???
Azorean disease is actually inherited from one parent, we can say it's inherited as an autosomal dominant trait. Each gene in the human body is made up of units called nucleotides, abbreviated C (cytosine), A, T and C (you had better know the rest:D). Azorean syndrome is caused by a genetic mutation that results in the over-duplication of a CAG trinucleotide sequence. Trinucleotide means a sequence of 3 nucleotides.
Azorean disease is primarily found in people of Portuguese ancestry, particularly people from the Azores islands. The incidences of Azorean disease is 1:4000 people in the Azores islands while in other ethnic groups is 1:6000. These ethnic groups include Japanese, Chinese (oh no, we are in danger) and more.
So how do we detect Azorean disease? The first observable symptoms are difficulty in walking and slurred speech. Mucular symptoms include:
• difficulty in walking, including staggering or stumbling,
• weakness in arms or legs,
• involuntary jerking or spastic motions,
• cramping or twisting of the hands and feet,
• facial tics and grimaces,
• twitching or rippling of the muscles in the face.
People also have double vision, bulging eyes, difficulty in looking upwards or opening the eyes, and a fixed, staring gaze and involuntary eye movements from side to side. All these seem so minor but who would have ever thought...Other symptoms include the loss of feeling in arms or legs, frequent urination, infections of the lungs, even difficulty in sleeping! So scarrrrryyy...
How do we know if we have Azorean disease? Observations of typical symptoms as well the study of one's familial medical history can tell. One can also go for brain imaging or blood tests. Even genetic studies will provide definite confirmation of the diagnosis of Azorean disease. One thing to note, the symptoms of Azorean disease are similar to those of Parkinson Disease (I suppose everyone should have heard this at least once, haha:D), Huntington Disease and multiple sclerosis, so careful diagnosis is required to distinguish Azorean disease.Above: This is a picture of a cross examination of a brain of a person with Huntington Disease.
As for the treatment, it is based on management of the symptoms. Sadly, there is no treatment that stops or reverses the effects of the disease itself. Medications that specifically treat movement disorders can help in alleviating some of the symptoms though and, experimental drugs and treatments under development for other neurological disorders may also benefit patients with Azorean disease. In addition, since Azorean disease is inherited, genetic counselling is recommended.
OK! Are my lectures still as long as ever??? Yes they are...haha, I must find a way to zip up my mouth. If not dear Detective CxY and Inspector Zhao will start complaining that I talk too much at work. Haha...
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