Pelvic floor dysfunction is a term used for a variety of disorders that occur when pelvic floor muscles and ligaments are impaired. The condition affects up to 50 percent of women who have given birth. Although this condition predominantly affects women, up to 16 percent of men are affected as well. Symptoms can include pelvic pain, pressure, pain during sex, urinary incontinence (UI), overactive bladder, bowel incontinence, incomplete emptying of feces, constipation, myofascial pelvic pain and pelvic organ prolapse. When pelvic organ prolapse occurs, there may be visible organ protrusion or a lump felt in the vagina or anus.Common treatments for pelvic floor dysfunction are surgery, medication, physical therapy and lifestyle modifications. Epidemiology
Pelvic floor dysfunction is defined as a herniation of the pelvic organs through the pelvic organ walls and pelvic floor. The condition is widespread, affecting up to 50 percent of women at some point in their lifetime. About 11 percent of women will undergo surgery for urinary incontinence or pelvic organ prolapse by age 80. Women who experience pelvic floor dysfunction are more likely to report issues with arousal combined with dyspareunia. For women, there is a 20.5% risk for having a surgical intervention related to stress urinary incontinence. The literature suggests that white women are at increased risk for stress urinary incontinence.Though pelvic floor dysfunction is thought to more commonly affect women, 16% of men have been identified with pelvic floor dysfunction.
Porphyrins additionally accumulate in the bone and teeth, resulting in erythrodontia. When unexpected attacks occur, abdominal pain, as well as vomiting and constipation commonly follow the attacks. Exposure to the sunlight can cause discomfort and result in blistering, consciousness of heat, and swelling and redness of the skin. Complications
Photomutilation and transfusion-dependent anemia are common complications. Liver disease is also observed in some cases. It has been reported that early childhood-onset haematological manifestations is a poor prognosis factor. Causes
Gunther disease is caused by mutations in the gene that encodes the enzyme uroporphyrinogen III synthase (UROS), located at human chromosome 10q25.2-q26.3. The disorder is inherited in an autosomal recessive manner. This means the defective gene is responsible for the disorder and is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. When there is a homozygous mutation it causes a uroporphyrinogen III synthase and uroporphyrinogen cosynthase defect. When the enzyme uroporphyrinogen III synthase is reacting normally it results in the making of isomer III porphyrinogen, which is what is used to form heme. When isomer III porphyrinogen is not produced because of a poor production of uroporphyrinogen III synthase then isomer I porphyrinogen is made which will oxidize and give a reddish tint skin.