Casefile 17: Azorean Disease

Hi, ready for another one of Dr. Kelly's loooong lectures? Haha, I was looking through this list of diseases and came upon this one with a funny name (actually most diseases have weird names). It's called Azorean disease. Beriberi sounds fruity and this one sounds exotic don't you think so?

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...

Casefile 16: Beriberi

I never knew that there could be such an unfortunate deficiency with such a 'cute' name. Beriberi. haha. It's like Fruity Tooty.

AHEM anyway, Beriberi is caused by the lack of Thiamine a.k.a Vitamin B1

There are two major types of Beriberi,
Wet Beriberi and Dry Beriberi

Wet Beriberi causes a possibly fatal combination of heart failure and the weakening of capillary walls which causes peripheral tissues to become waterlogged. Symptoms include increased heart rate, swelling of lower legs and shortness of breath with activity.

Dry Beriberi damages peripheral nerves and this causes the person to become partially paralysed. Symptoms include difficulty walking, loss of feeling in hands and feet and speech difficulties.

There is a rare condition known as genetic beriberi. People with genetic beriberi lose the ability to absorb thiamine from foods. This can happen slowly over time and symptoms occur when the person is an adult.

Beriberi can also occur in infants when the milk he or she is feeding on, be it breat milk or formula, is lacking in thiamine. Luckily for those babies on formula milk, most formula milk made now has a lot of added vitamins and DHA and other things which contribute to a healthy bouncy baby.


When left untreated, Beriberi can lead to complications like psychosis, comas, congestive heart failure and even death.

So what is the treatment for Beriberi?

It is thiamine hydrochloride, either in tablet form or injection. Patients usually make a rapid recovery after getting treated. It also helps to eat food rich in thiamine, such as meat, vegetables, legumes and unrefined rice or cereal.

Again I stress how important it is to maintain a healthy diet as this is one way to prevent a great number of diseases. I mean you don't want to become like the Beriberi patient in the picture below.