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Results: 4

1.

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
2.

Hypokalemic periodic paralysis 1

Hypokalemic periodic paralysis (HOKPP) is characterized by a paralytic form and a myopathic form. The paralytic form is characterized by attacks of reversible flaccid paralysis with concomitant hypokalemia, usually leading to paraparesis or tetraparesis but sparing the respiratory muscles and heart. Acute paralytic crises usually last at least several hours and sometimes days. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are carbohydrate-rich meals and rest after exercise; rarely, cold-induced hypokalemic paralysis has been reported. The interval between crises may vary and may be prolonged by preventive treatment with potassium salts or acetazolamide. The age of onset of the first attack ranges from one to 20 years; the frequency of attacks is highest between ages 15 and 35 and then decreases with age. The myopathic form develops in approximately 25% of affected individuals and results in a progressive fixed muscle weakness that begins at variable ages as exercise intolerance predominantly in the lower limbs. It occurs independent of paralytic symptoms and may be the sole manifestation of HOKPP. Individuals with HOKPP are at increased risk for pre- or post-anesthetic weakness and have a risk for malignant hyperthermia that is increased but not as high as that for individuals with true autosomal dominant malignant hyperthermia susceptibility (MHS). [from GeneReviews]

MedGen UID:
468371
Concept ID:
CN031165
Disease or Syndrome
3.

Potassium aggravated myotonia

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. [from OMIM]

MedGen UID:
156269
Concept ID:
C0752355
Disease or Syndrome
4.

Hypokalemic periodic paralysis

Hypokalemic periodic paralysis (HOKPP) is characterized by a paralytic form and a myopathic form. The paralytic form is characterized by attacks of reversible flaccid paralysis with concomitant hypokalemia, usually leading to paraparesis or tetraparesis but sparing the respiratory muscles and heart. Acute paralytic crises usually last at least several hours and sometimes days. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are carbohydrate-rich meals and rest after exercise; rarely, cold-induced hypokalemic paralysis has been reported. The interval between crises may vary and may be prolonged by preventive treatment with potassium salts or acetazolamide. The age of onset of the first attack ranges from one to 20 years; the frequency of attacks is highest between ages 15 and 35 and then decreases with age. The myopathic form develops in approximately 25% of affected individuals and results in a progressive fixed muscle weakness that begins at variable ages as exercise intolerance predominantly in the lower limbs. It occurs independent of paralytic symptoms and may be the sole manifestation of HOKPP. Individuals with HOKPP are at increased risk for pre- or post-anesthetic weakness and have a risk for malignant hyperthermia that is increased but not as high as that for individuals with true autosomal dominant malignant hyperthermia susceptibility (MHS). [from GeneReviews]

MedGen UID:
116058
Concept ID:
C0238358
Disease or Syndrome

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