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Doctor insights on: Porphyria Progressive

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Is porphyria progressive or lethal?

It can be: There are many forms of porphyria, some of which are rather mild and inconsequential, others of which are progressive and possibly lethal. If you suspect that you have porphyria, then you need to see your doc right away for diagnosis and treatment. ...Read more

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Dr. Aletha Tippett
93 doctors shared insights

Porphyria (Definition)

A group of rare hereditary conditions involving abnormal metabolism of heme. A common form, Porphyria cutanea tarda affects the skin, with blisters, itching and rash that are worse after sun exposure. In Acute Intermittent Porphyria, abdominal pain, muscle pain, numbness or tingling, seizures, and ...Read more


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Porphyria cutanea tarda symptoms?

Porphyria cutanea tarda symptoms?

Skin changes: A physician familiar with pct can make the call just on physical exam. The labs are confirmatory. A check for iron overload and hepatitis c are wise, but you'll manage the illness by becoming educated and doing a few simple things. Best wishes. ...Read more

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Hows porphyria cutanea tarda diagnosed?

Hows porphyria cutanea tarda diagnosed?

See below: The preferred screening test for pct is a measurement of porphyrins in plasma. This can differentiate pct from variegate porphyria. The patterns of porphyrins in urine (predominately uroporphyrin and 7-carboxylate porphyrin) and feces (predominately isocoproporphyrin) help to confirm the diagnosis. The presence of an inherited deficiency of urod can be demonstrated by measuring the enzyme in rbcs. ...Read more

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Is progressive supranuclear palsy a demyelinating disease?

Is progressive supranuclear palsy a demyelinating disease?

PSP: Progressive supranuclear palsy: the disorder's long name indicates that the disease begins slowly and continues to get worse (progressive), and causes weakness (palsy) by damaging certain parts of the brain above pea-sized structures called nuclei that control eye movements (supranuclear). It is central; demyelinating conditions occur in the peripheral nervous system. ...Read more

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What is progressive systematic sclerosis?

What is progressive systematic sclerosis?

Con. tissue disease: It is a connective tissue disease like muscle fibres and subcutaneous tissue and causes swelling, pain and redness all over the body. In the pregnant ladies it may cause pre-term babies and small for age babies birth. ...Read more

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What's porphyria cutanea tarda?

What's porphyria cutanea tarda?

See below: Pct is one of the hepatic porphyrias. Large amounts of porphyrins build up in the liver when the disease is becoming active. The disease becomes active when acquired factors, such as iron, alcohol, hepatitis c virus (hcv), hiv, Estrogens (used, for example, in oral contraceptives and prostate cancer treatment) and possibly smoking, combine to cause a deficiency of urod in the liver. ...Read more

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Can you explain progressive reversible encephalopathy syndrome?

Can you explain  progressive reversible encephalopathy syndrome?

Allergic brain rxn: Posterior reversible encephalopathy syndrome (pres) is often only an MRI finding of increased signal in temporal, parietal, and occipital brain regions. The main correlate of pres is a history of having received immunotherapy. In association with alzheimer's trials, this is called aria for amyloid related imaging abnormalities. ...Read more

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What is progressive neuro-degenerative disease or any neuro-degenerative or atrophy cerebellar diseases or mental diseases?

What is progressive neuro-degenerative disease or any neuro-degenerative or atrophy cerebellar diseases or mental diseases?

Example: Neurodegenerative illnesses that affect the cerebellum may be the different forms of multiple system atrophy, such as OPCA. Other neurodegenerative illnesses (that do not affect the cerebellum) include Alzheimers, Parkinsons, and ALS. ...Read more

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Can acute intermittent porphyria cause mental illness or psychosis?

Can acute intermittent porphyria cause mental illness or psychosis?

Short answer- YES: The diagnosis of AIP should always be in the differential diagnosis of a person who becomes psychotic& who fits a certain clinical profile which usually includes vague GI symptoms and abdominal pain unexplained neuropathy, and other characteristic symptoms. Feel free to write me more questions on this topic and I'll be happy to answer: www.healthtap.com/drsaghafi ...Read more

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How is porphyria cutanea tarda treated?

How is porphyria cutanea tarda  treated?

See below: Pct is the most treatable of the porphyrias. Treatment seems to be equally effective in familial and non-familial pct. Factors that tend to activate the disease should be removed. The most widely recommended treatment is a schedule of repeated phlebotomies (removal of blood), with the aim of reducing iron in the liver. This actually reduces iron stores throughout the body. ...Read more

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What is porphyria cutanea tarda?

What is porphyria cutanea tarda?

Blistering disease: It is a disease that causes blistering seen more often in alcoholics because of enzyme defect causing increased porphyrins in blood. See dermatologist for full details and treatment. ...Read more

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Progressive degenerative myopathy, what is this disorder?

Progressive degenerative myopathy, what is this disorder?

Muscle degeneration: There are several types of progressive muscle degeneration. Duchenne muscular dystrophy is one of the better known. Other variants of muscular dystrophy are less severe. Spinal muscular atrophy results from loss of anterior horn cells in the spinal cord that causes progressive degeneration of the involved muscles with weakness. Toxic myopathy can occur including associated with steroid use. ...Read more

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Treatment for progressive gait imbalace and progressive dysarthria slurred speech?

Treatment for progressive gait imbalace and progressive dysarthria slurred speech?

Uncover cause: Likely best to see a neurologist. There are multiple problems which can cause this, and treatment follows diagnosis. ...Read more

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What can cause progressive supranuclear palsy?

What can cause progressive supranuclear palsy?

Tau protein D/O: No, tau protein deposits & neurofibrillary tangles in neurons cause the death of these cells. Because they are in some similar areas as parkinson's disease, psp can appear similar clinically, but there are clear differences. Treatment approaches are roughly the same with different areas needing most attention. Primarily balance/falls/injury, did inhibiting dementia & dysphagia/aspiration. ...Read more

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How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

Because it is: No disrespect is intended. Two defective copies of the gene atp7b, one from each carrier parent, renders the person incapable of unloading copper from cells that need to lose it. ...Read more

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Is multiple sclerosis progressive and fatal?

Is multiple sclerosis progressive and fatal?

Prog.disease: There is a variant form of MS that is very aggressive that can lead to coma or death. However most of the other forms do not have such a grave prognosis. If left untreated >30 % of patients will develop significant disability within 20->25 years after onset. Life expectancy is shortened only slightly, death usually results from secondary complications. ...Read more

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Dr. John Oro Dr. Oro
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What is ALS ( lou gehrigs disease )?

Dr. John Oro Dr. Oro
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What is ALS ( lou gehrigs disease )?

Paralysis of muscles: Lou gehrig's disease is also known as amyotrophic lateral sclerosis. The disease attacks nerve cells in the brain and spinal cord that run the muscles that we can normally control. The cause of the disease is not known. In about 10% it is genetic. People with lou gehrig's disease slowly become weak in the arms and legs, and can have difficulty speaking, swallowing, and breathing. ...Read more

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What is secondary progressive ms

What is secondary progressive ms

See below: Secondary progressive MS is a more advanced stage of relapsing remitting ms. In this stage, individuals experience fewer recognized neurological relapses, and betwen such attacks begin to accumulate measureable worsening of physical or cognitive disability. It is not a distinct form of disease, but part of the spectrum of relapsing ms. ...Read more

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Rapidly progressive dementia, prognosis in elderly, 83?

Rapidly progressive dementia, prognosis in elderly, 83?

Undetermined: Dementia is a progressive disease. At this point in time medication can only slow it down, not stop it. If you are asking if the dementia will continue, it probably will at the same rate. ...Read more

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