Physician’s Summary: Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis (HypoKPP) is one of the primary forms of periodic paralysis, caused by one or more mutations in the calcium, sodium or potassium ion channels in muscle membrane. Features of Hypokalemic Periodic Paralysis There are two forms of HypoKPP, a paralytic form and a myopathic form. The paralytic form is…
Carbonic Anhydrase InhibitorsDichlorphenamide is an FDA approved carbonic anhydrase inhibitor used for primary hypo and hyperforms of periodic paralysis. The exact mechanism of action for these conditions is unknown. It isavailable as the brand name Keveyis from Xeris pharmaceutical. It has also recently been made availablein a generic form. For the brand name Keveyis, Xeris…
The normal renal response when hypokalemia is due to non-renal causes is a TTKG <2, where a TTKG >5 is indicative of increased secretion of K+ in the cortical collecting ducts. Thus a transtubular potassium concentration gradient (TTKG) of greater than 3.0 indicates hypokalemia of renal origin, while a value below 2.0 indicates intracellular shift…
Question: My doctor wants to prescribe a medication called acetazolamide. Is that okay for someone with Hypokalemic periodic paralysis? When I look on the web it says this medication causes you to excrete potassium. How can that be good for me? Answer: The “starter pak” is Diamox (acetazolamide) plus a potassium supplement. While Diamox reduces…
What is Andersen-Tawil Syndrome? Andersen-Tawil Syndrome (ATS) is a rare inherited disorder which causes episodes of paralysis or weakness, heart rhythm irregularities including a prolonged QT interval which makes the heart more likely to experience tachycardia (a regular but too rapid heart rate) or dangerous irregular heart rates. ATS typically causes some physical characteristics as…
Hospital Management Guidelines for Patients with Andersen-Tawil Syndrome Patient’s Name: ___________________________________________________ Birthdate: ______________________Height: _____________Weight: _____________ Address: _____________________________________________________________ ______________________________________________________________________ Primary Physician: ___________________________________________________ Physician Phone: ___________________________ FAX:__________________________ Emergency contact: Name ___________________________________________ Relationship: ________________________________________________________ home phone# ___________________cell # _____________________________ PRECAUTIONS: Place patient in coma position to…
A Physician’s Summary Andersen-Tawil Syndrome (ATS) is a genetic disorder which causes a distinctive pattern of features; 1) Episodes of muscle weakness and/or flaccid paralysis (i.e periodic paralysis) 2) Certain kinds of heart rhythm disturbances and 3) Differences in facial and body structure. Clinical signs: Most ATS patients begin to have symptoms by the time…
Physician’s Summary Paramyotonia Congenita (PMC) is one of the periodic paralyses caused by mutations in the sodium channel. PMC causes muscle stiffness (myotonia) which is made worse by chilling or activity. Myotonia usually eases when the patients moves about, or “warms up” through physical activity. In PMC myotonia develops during activity, which is paradoxical or…
Paramyotonia congenita (PMC) is a muscle disorder which causes muscle stiffness (myotonia) that appears during exercise and becomes much more severe upon exposure to cold. The myotonia which occurs during attacks of PMC may be so severe that the patient cannot inhale and exhale properly, and movement becomes difficult. The medical term myotonia means that…
Physician’s Summary Clinical Signs Hyperkalemic Periodic Paralysis is a genetically determined disorder which causes episodes of weakness and flaccid paralysis of the limbs. The muscles of the eyes, throat, and trunk may also be affected. Episodes last from minutes to hours, very rarely up to 1-2 days. Some patients experience only a few episodes over…