hypokalemic periodic paralysis

Mutations in the following genes can cause hypokalemic periodic paralysis:

Hypokalemic periodic paralysis results from mutations in subunits of sodium or calcium channels.

Mutations in this gene are associated with hypokalemic periodic paralysis and Brugada syndrome.

Treatment of hypokalemic periodic paralysis focuses on preventing further attacks and relieving acute symptoms.

In hypokalemic periodic paralysis, arginine residues making up the voltage sensor of Na1.4 are mutated.

June 29 - Elizabeth Barrett Browning, poet, 55 (possibly from hypokalemic periodic paralysis)

Some modern scientists speculate her illness may have been hypokalemic periodic paralysis, a genetic disorder that causes weakness and many of the other symptoms she described.

Neurological seizures, neuropathy from nerve entrapment by lesions of pretibial myxedema, and hypokalemic periodic paralysis may occur.

Conversion disorder presents with symptoms that typically resemble a neurological disorder such as stroke, multiple sclerosis, epilepsy or hypokalemic periodic paralysis.

The sensory overstimulation is triggered by large carbohydrate meals, sodium chloride intake, and the period following exercise, the same factors known to trigger hypokalemic periodic paralysis.

Rare hereditary defects of muscular ion channels and transporters that cause hypokalemic periodic paralysis can precipitate occasional attacks of severe hypokalemia and muscle weakness.

Although agitation is often assumed to be a positive sign of conversion disorder, release of epinephrine is a well-demonstrated cause of paralysis from hypokalemic periodic paralysis.

Migraines occur in up to 50% of all hypokalemic periodic paralysis patients and may include less common symptoms like phantom smells, sensitivity to light and sound or loss of words.

The tendency of people with hypokalemic periodic paralysis to get paralyzed when epinephrine is released in "fight or flight" situations further adds to the temptation to dismiss the disorder as psychiatric.

Hypokalemic sensory overstimulation is a form of attention deficit hyperactivity disorder that has several similarities to disorders of ion channels, in particular to the muscle disorder hypokalemic periodic paralysis.

People with hypokalemic periodic paralysis are aften misdiagnosed as having a conversion disorder or hysterical paralysis since the weakenss is muscle based and doesn't correspond to nerve or spinal root distributions.

In contrast to HyperKPP, Hypokalemic Periodic Paralysis (noted in humans) refers to loss-of-function mutations in channels that prevent muscle depolarisation and therefore are aggravated by low potassium ion concentrations.

Hypokalemic periodic paralysis is a rare, autosomal dominant channelopathy characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood (primarily due to defect in a voltage-gated calcium channel).

These issues and other treatment approaches are discussed in a detailed review of treatment of hypokalemic periodic paralysis by Dr. Jacob O Levitt, a dermatologist who has hypokalemic periodic paralysis.

In hypokalemic periodic paralysis (HOKPP), the voltage sensors in domains 2 and 4 of Ca1.1 are mutated (loss-of-function), reducing the availability of the channel to sense depolarisation, and therefore it cannot activate the ryanodine receptor as efficiently.

Genetic diagnosis is often unreliable as only a few of the more common gene locations are tested, but even with more extensive testing 20-37% of people with a clinical diagnosis of hypokalemic periodic paralysis have no known mutation in the two known genes.

Since hypokalemic sensory overstimulation and hypokalemic periodic paralysis have similar triggers and treatments, and since there is a relative ineffectiveness of the sodium-channel blocker lidocaine in hypokalemic sensory overstimulation, hypokalemic sensory overstimulation may be another disorder in the "channelopathy" group.