Periodic paralysis

Periodic paralysis is a group of rare genetic diseases that lead to weakness or

paralysis (rarely death) from common triggers such as cold, heat, high
carbohydrate meals, not eating, stress or excitement and physical activity of any
kind. The underlying mechanism of these diseases are malfunctions in the ion
channels in skeletal muscle cell membranes that allow electrically charged ions
to leak in or out of the muscle cell, causing the cell to depolarize and become
unable to move (a channelopathy).
The symptoms of periodic paralysis can also be caused by hyperthyroidism;
however, if this is the underlying condition there are likely to be other
characteristic manifestations, enabling a correct diagnosis.Contents [hide]
1 Types
2 Diagnosis
3 Treatment
4 Prognosis
5 External links
Periodic paralysis is an autosomal dominant myopathy with considerable
variation in penetrance, leading to a spectrum of familial phenotypes (only one
parent needs to carry the gene mutation to affect the children, but not all family
members who share the gene are affected to the same degree). Specific
diseases include:
Hypokalemic periodic paralysis (Online 'Mendelian Inheritance in Man' (OMIM)
170400), where potassium leaks into the muscle cells from the bloodstream.
Hyperkalemic periodic paralysis (Online 'Mendelian Inheritance in Man' (OMIM)
170500), where potassium leaks out of the cells into the bloodstream.
Paramyotonia congenita (Online 'Mendelian Inheritance in Man' (OMIM) 168300),
a form which often accompanies hyperkalemic periodic paralysis, but may
present alone. The primary symptom of paramyotonia congenita is muscle
contracture which develops during exercise or activity. Paramyotonia congenita
attacks may also be triggered by a low level of potassium in the bloodstream.
This means people with both hyperkalemic periodic paralysis and paramyotonia
congenita can have attacks with fluctuations of potassium up or down.
Andersen-Tawil syndrome (Online 'Mendelian Inheritance in Man' (OMIM)
170390), a form of periodic paralysis that includes significant heart rhythm
problems, fainting and risk of sudden death. Potassium levels may be low, high,
or normal during attacks of ATS. Patients with ATS may also have skeletal
abnormalities like scoliosis (curvature of the spine), webbing between the second
and third toes or fingers (syndactyly), crooked fingers (clinodactyly), a small jaw
(micrognathia) and low-set ears.

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Diagnosis

This disease is unusually difficult to diagnose. Patients often report years of

wrong diagnosis and treatments that made them worse instead of better. Part of
this may be that migraines are present in up to 50% of patients and can cause a
confusing array of symptoms including headaches, speech difficulties and visual,
auditory or sensory auras. DNA testing is available for only a half dozen common
gene mutations, while dozens of known mutations are possible but are not
routinely tested. EMG results will be normal except during attacks. A properly
performed Exercise EMG (Compound Muscle Amplitude Potential Test) can
provide an accurate diagnosis in better than 80% of cases. The old
glucose/insulin provocative testing can cause life-threatening symptoms and
should not be used.

Also of note is that potassium levels do not have to range outside of normal
limits to cause serious, even life-threatening paralysis. These diseases are not
the same as having a very low level of potassium (hypokalemia) or high
potassium (hyperkalemia) and must not be treated as such. The total body store
of potassium is usually normal; it is just in the wrong place.
[edit]
Treatment

Treatment of the periodic paralyses usually includes carbonic anhydrase

inhibitors (such as acetazolamide or dichlorphenamide), taking supplemental
oral potassium chloride and a potassium-sparing diuretic (for hypos) or avoiding
potassium (for hypers), thiazide diuretics to increase the amount of potassium
excreted by the kidneys (for Hypers), and significant lifestyle changes including
tightly controlled levels of exercise or activity. However, the exact gene
mutation, the ion channel affected, and the amount of genetic change or
expression can have significant impact on disability and treatment.

Treatment of Andersen-Tawil syndrome is similar to that for other types of

periodic paralysis, with dichlorphenamide the drug of first choice. However,
Pacemaker insertion or an implantable cardioverter-defibrillator may be required
to control cardiac symptoms.

Also having potassium ions administered intravenously. Which will speed up

recovery.