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Doctor insights on: Isaacs Syndrome

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What is neuromytonia (isaacs syndrome)?

What is neuromytonia (isaacs syndrome)?

Neuromyotonia (NMT): Neuromyotonia (nmt), also known as isaacs' syndrome, is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. Patients with this disorder usually develop: cramps, muscle twitches, muscle stiffness and spasms. Muscle relaxation can difficult and hand getting stuck closed is one example. ...Read more

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Is a plasma exchange the best treatment for neuromytonia (isaacs syndrome)?

Is a plasma exchange the best treatment for neuromytonia (isaacs syndrome)?

Not usually: The inherited forms do not typically respond to plasma exchange. If you are the only person in the family who has the disorder, you may benefit from plasma exchange. Symptoms usually come back not long after the intervention. ...Read more

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What's pisa syndrome?

Pisa syndrome: A persistent administration of antipsychotic can produce persistent dystonia , which is called pisa syndrome. ...Read more

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What is mrkh syndrome?

What is mrkh syndrome?

MRKH Syndrome: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome - the vagina & uterus are underdeveloped or absent. ...Read more

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What's downs syndrome?

What's downs syndrome?

Downs syndrome: Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. ...Read more

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What's ribtip syndrome?

What's ribtip syndrome?

Rib-tip Syndrome: Rib-tip syndrome is also called “costo-iliac impingement syndrome”. It occurs when the top of the hip bone touches or rubs on the lowest rib & leads to pain. ...Read more

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What is berhs syndrome?

What is berhs syndrome?

Genetic blindness: This is an autosomal recessive disease (i.e., the patient inherits one defective gene from each parent), with progressive loss of vision and sometimes other neurologic problems. Carriers (one copy of the gene) may have some visual problems. There is no specific treatment, and my hope is that if you or someone you know is affected, good supportive care will be available. ...Read more

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What is sharpe syndrome?

What is sharpe syndrome?

Sharpe Syndrome : Its another name for mixed connective tissue disease, an autoimmune disease with features of systemic lupus erythematosus, scleroderma, and polymyositis, sometime referred to as undifferentiated connective tissue disease. Individuals who have this condition are best served by a rheumatologist (an internist with subspecialty training in rheuamtology). ...Read more

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What is cowden syndrome?

What is cowden syndrome?

Tumor family: This is a fairly common trait passed parent-to-child, 50% chance, in which certain tumors are substantially more common and there may be curious bumps especially on the skin. It is not curable but if good surveillance for tumors is maintained, it's manageable. Several genetic loci are known especially pten, and genetic counseling is available. ...Read more

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What is reye's syndrome?

What is  reye's syndrome?

Deadly process: First noted in the 60'sand peaking in the 70's, this is a pattern of acute liver failure,coma and often death. It often struck kids recovering from flu or chickenpox. Its cause is unclear, but an association with intake of any salicylate product was recognized.After salicylates were stopped for kids under 16, the condition has all but disappeared. ...Read more

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