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Hypokalemic periodic paralysis, type 2(HOKPP2)

MedGen UID:
413748
Concept ID:
C2750061
Disease or Syndrome
Synonym: HOKPP2
 
Gene (location): SCN4A (17q23.3)
 
Monarch Initiative: MONDO:0013234
OMIM®: 613345

Disease characteristics

Excerpted from the GeneReview: Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. 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 cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP. [from GeneReviews]
Authors:
Frank Weber  |  Frank Lehmann-Horn   view full author information

Additional description

From MedlinePlus Genetics
People with hypokalemic periodic paralysis typically have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.

Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, some develop persistent muscle weakness later in life.  https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis

Clinical features

From HPO
Chest tightness
MedGen UID:
534419
Concept ID:
C0232292
Sign or Symptom
An unpleasant sensation of tightness or pressure in the chest.
Periodic paralysis
MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
Episodes of muscle weakness.
Myotonia
MedGen UID:
675119
Concept ID:
C0700153
Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Episodic flaccid weakness
MedGen UID:
871107
Concept ID:
C4025572
Finding
Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.

Recent clinical studies

Etiology

Benhammou JN, Phan J, Lee H, Ghassemi K, Parsons W, Grody WW, Pisegna JR
J Mol Neurosci 2017 Mar;61(3):312-314. Epub 2016 Dec 23 doi: 10.1007/s12031-016-0878-5. PMID: 28012096Free PMC Article

Diagnosis

Wang Q, Zhao Z, Shen H, Bing Q, Li N, Hu J
Channels (Austin) 2021 Dec;15(1):20-30. doi: 10.1080/19336950.2020.1857980. PMID: 33345742Free PMC Article
Zhao C, Tang D, Huang H, Tang H, Yang Y, Yang M, Luo Y, Tao H, Tang J, Zhou X, Shi X
PLoS One 2020;15(5):e0233017. Epub 2020 May 14 doi: 10.1371/journal.pone.0233017. PMID: 32407401Free PMC Article
Huang S, Zhang W, Chang X, Guo J
Channels (Austin) 2019 Dec;13(1):110-119. doi: 10.1080/19336950.2019.1600967. PMID: 30931713Free PMC Article
Benhammou JN, Phan J, Lee H, Ghassemi K, Parsons W, Grody WW, Pisegna JR
J Mol Neurosci 2017 Mar;61(3):312-314. Epub 2016 Dec 23 doi: 10.1007/s12031-016-0878-5. PMID: 28012096Free PMC Article
Meola G, Sansone V, Rotondo G, Mancinelli E
Eur J Histochem 2003;47(1):17-28. doi: 10.4081/803. PMID: 12685554

Prognosis

Meola G, Sansone V, Rotondo G, Mancinelli E
Eur J Histochem 2003;47(1):17-28. doi: 10.4081/803. PMID: 12685554

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