Rare Diseases in Medicine part 1

I was trolling the net, and taking a look at a blog that I really like the list 10 behold, I come across the following list , the 10 rarest anomalies in medicine . I was very curious and readily accessed the link that took me to the website Digital Metamorphosis . There I found the description of these anomalies such , really scarce in the medical field . Actually, I 've never seen any patients with these diseases and hardly think I will find someone that has . I'm only with reading and with the hope that one day I encounter myself with one of these patients , it would be very interesting . Logical for me and not for the person with the disease .

Here are the 10 rarest anomlias medicine .



10 - Riley - Day syndrome , congenital insensitivity to pain

Frequency : 100 documented cases in the United States . It is unknown how often elsewhere by not easily be diagnosed by spending almost always unnoticed .

Cause: Discovery recently . This is due to a mutation in charge of the synthesis of one type of sodium channel is found in neurons mainly responsible for receiving and transmitting painful stimuli gene.

Description : They are totally normal subjects in tact and sensitivity to cold, heat, pressure and tickle . However , before any act that would cause pain in normal people (like nailing a needle ) does not cause any painful sensation . As a consequence , they tend to die younger by injuries and lesions to feel no harm. Should always be under the care of the eyes as children so they do not hurt themselves.

9 - Moebius Syndrome 

Frequency: Around 80 documented in Spain, 200 in England and 5 cases in Argentina. 

Cause: Unknown. Do not even know if the nerves, the brainstem or the muscles that are affected in the origin of the disease are. There are many and varied but unproven hypothesis that validate. 

Description: Due to the failure to develop any facial nerve, people who are born with this syndrome lack of facial expression. Can not smile or frown, etc.. Also can not move laterally or control the blinking eyes of eyes. Are often found sleeping with his eyes open. Have great difficulty in blowing, swallowing, speaking and any activity involving the muscles of the face.

8 - True hermaphroditism 

Frequency: Around 500 documented cases worldwide. Unknown whether the actual frequency in the population. 

Cause: The person is a hermaphrodite chimera. It is produced by the fusion of two zygotes of different sexes. That is, first a sperm and an egg fecundaría then another sperm fecundaría another egg. Zygotes formed were destined to be twins, but end up merging and becoming a single individual who, genetically, is woman and man at the same time. It is unknown why this merger occurs. 

Description: Hermaphrodites have both testicular and ovarian tissue. The external genitals are ambiguous and have components of both sexes. Hermaphrodite people can have both feminine and masculine appearance.

7 - ossificans progressive Fibrodysplasia

Frequency : 200-300 documented cases worldwide . The few who has knowledge of the disease often impossible diagnosis. Arises once for every two million births are estimated .

Cause: Unknown . It is a disease of autosomal dominant inheritance . It is believed that many genes are involved in synthesizing responsible for bone growth factors.

Description: This gives disease is recurrent episodes of inflammation of soft tissues and the development of subcutaneous tumors and muscles. These lesions cause the formation of bone in places where there should never be bone, such as ligaments , muscles, tendons, joints ... Injuries also trigger and advance ossification of soft tissues. Progressively, the individual will increasingly lost mobility until, inability to move the muscles responsible for breathing, dies of asphyxiation .

6 - Curse of Ondine ( primary alveolar hypoventilation )

Frequency: Between 200 to 300 known cases worldwide . Why be a cause of sudden death is estimated that the known cases are only the tip of the iceberg and that, in fact 1.2 million every baby born with this anomaly.

Cause: Mostly known . The main cause is a mutation or more of the PHOX2B gene, autosomal dominant . Mechanisms of involuntary breathing do not work correctly. Sleeping , chemical receptors that receive ( low oxygen or increased carbon dioxide in the blood ) does not receive signals to transmit nerve signals that are necessary to give away.

Description: In mild forms of Ondine 's curse , the subject can live normally , but will still be sleepy during the day , easily tired, constant headache with increasing level of red blood cells.

In the most severe forms usually appear at birth , most babies die without it often gets to know the cause. However, in those where the disease gradually worsens and can lead to the death of the cross , it is generally assisted ventilation during the night ....

see the newt post for the complete