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Porphyria

The porphyrias are a group of disorders where there is a problem with the production of haem within the body. Haem is used to make haemoglobin in red blood cells. There are seven different types of porphyria and in most cases they are inherited (run in families). In each type, there is a lack of one of the enzymes (special proteins) which controls one of the steps in haem synthesis (the making of haem). This means that substances that are made during the process leading up to haem synthesis (including porphyrins) are overproduced and can build up within the body and cause symptoms. It is important that the type of porphyria that you have should be identified. This is because they can have different symptoms and effects on the body. Symptoms vary greatly and can include abdominal pain, nervous system problems, mental health problems and skin problems. You may need to avoid certain things such as certain drugs or alcohol that may ‘trigger’ an attack of porphyria.

The full article about Porphyrias can be found at patient.co.uk.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Accused of Being a Hypochondriac, Lisa is Finally Diagnosed with Acute Intermittent Porphyria

A swollen stomach made her look pregnant, but the pain — “burning,” “shocking,” “horrible,” “out-of-this world,” as she describes it — was worse than childbirth, leaving her doubled over and gasping for breath. Symptoms came and went, seemingly at random. Vomiting. Constipation. High blood pressure. A racing pulse. Numbness in her hands. Paralysis in her right foot.

The full article can be found at GlobalGenes.com.

Copyright © Author Michael Overall

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Video: Muscular Dystrophy – Duchenne, Becker and Mytonic

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: More Info: Myoclonus Dystonia

Myoclonus dystonia, a genetic form of dystonia, is characterized by rapid jerking movements alone or in combination with the sustained muscular contractions and postures of dystonia.

 

The full text can be found at http://dystonia-foundation.org/what-is-dystonia/forms-of-dystonia/myoclonus-dystonia/more-on-myoclonic-dystonia.

Copyright © Dystonia Medical Research Foundation

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Paths to understanding the genetic basis of autoimmune disease

Some people inherit an unfortunate combination of genetic sequences, such that exposure to an external trigger causes their immune response to turn on their own tissues. Although mutations in a single gene can cause autoimmunity, most autoimmune diseases are associated with several sequence variants. Marked advances in genetic resources and tools are now making it possible to identify the sequence variants that contribute to autoimmune diseases — promising a better understanding of how we normally remain tolerant of our own tissue components, and how this goes wrong in autoimmune disease.

The full article can be found at Nature.com.

 

Copyright © Nature June 2005 | by John D. Rioux1, & Abul K. Abbas

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.