U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hyperkalemic periodic paralysis(HYPP)

MedGen UID:
68665
Concept ID:
C0238357
Disease or Syndrome
Synonyms: Adynamia episodica hereditaria with or without myotonia; Familial hyperkalemic periodic paralysis; Gamstorp disease; Gamstorp episodic adynamy
SNOMED CT: Familial hyperkalemic periodic paralysis (304737009); Hyperkalemic periodic paralysis (304737009); Adynamia episodica hereditaria (304737009); Gamstorp disease (304737009); Periodic paralysis II (304737009)
 
Gene (location): SCN4A (17q23.3)
 
HPO: HP:0007215
Monarch Initiative: MONDO:0008224
OMIM®: 170500

Disease characteristics

Excerpted from the GeneReview: Hyperkalemic Periodic Paralysis
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, breathing muscles, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, normal serum potassium between attacks, and onset before age 20 years. In approximately half of affected individuals, attacks of flaccid muscle weakness begin in the first decade of life, with 25% reporting their first attack at age ten years or older. Initially infrequent, the attacks then increase in frequency and severity over time until approximately age 50 years, after which the frequency of attacks declines considerably. The major attack trigger is eating potassium-rich foods; other triggers include: cold environment; rest after exercise, stress, or fatigue; alcohol; hunger; and changes in activity level. A spontaneous attack commonly starts in the morning before breakfast, lasts for 15 minutes to one hour, and then passes. Individuals with hyperPP frequently have myotonia (muscle stiffness), especially around the time of an episode of weakness. Paramyotonia (muscle stiffness aggravated by cold and exercise) is present in about 45% of affected individuals. More than 80% of individuals with hyperPP older than age 40 years report permanent muscle weakness and about one third develop a chronic progressive myopathy. [from GeneReviews]
Authors:
Frank Weber   view full author information

Additional description

From MedlinePlus Genetics
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently in many people with the condition. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to hot or cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands.

Most people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results when the weak or paralyzed muscles release potassium ions into the bloodstream. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not go up.  https://medlineplus.gov/genetics/condition/hyperkalemic-periodic-paralysis

Clinical features

From HPO
Hyperkalemic periodic paralysis
MedGen UID:
68665
Concept ID:
C0238357
Disease or Syndrome
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, breathing muscles, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, normal serum potassium between attacks, and onset before age 20 years. In approximately half of affected individuals, attacks of flaccid muscle weakness begin in the first decade of life, with 25% reporting their first attack at age ten years or older. Initially infrequent, the attacks then increase in frequency and severity over time until approximately age 50 years, after which the frequency of attacks declines considerably. The major attack trigger is eating potassium-rich foods; other triggers include: cold environment; rest after exercise, stress, or fatigue; alcohol; hunger; and changes in activity level. A spontaneous attack commonly starts in the morning before breakfast, lasts for 15 minutes to one hour, and then passes. Individuals with hyperPP frequently have myotonia (muscle stiffness), especially around the time of an episode of weakness. Paramyotonia (muscle stiffness aggravated by cold and exercise) is present in about 45% of affected individuals. More than 80% of individuals with hyperPP older than age 40 years report permanent muscle weakness and about one third develop a chronic progressive myopathy.
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.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperkalemic periodic paralysis
Follow this link to review classifications for Hyperkalemic periodic paralysis in Orphanet.

Conditions with this feature

Hyperkalemic periodic paralysis
MedGen UID:
68665
Concept ID:
C0238357
Disease or Syndrome
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, breathing muscles, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, normal serum potassium between attacks, and onset before age 20 years. In approximately half of affected individuals, attacks of flaccid muscle weakness begin in the first decade of life, with 25% reporting their first attack at age ten years or older. Initially infrequent, the attacks then increase in frequency and severity over time until approximately age 50 years, after which the frequency of attacks declines considerably. The major attack trigger is eating potassium-rich foods; other triggers include: cold environment; rest after exercise, stress, or fatigue; alcohol; hunger; and changes in activity level. A spontaneous attack commonly starts in the morning before breakfast, lasts for 15 minutes to one hour, and then passes. Individuals with hyperPP frequently have myotonia (muscle stiffness), especially around the time of an episode of weakness. Paramyotonia (muscle stiffness aggravated by cold and exercise) is present in about 45% of affected individuals. More than 80% of individuals with hyperPP older than age 40 years report permanent muscle weakness and about one third develop a chronic progressive myopathy.
Pseudohypoaldosteronism type 2A
MedGen UID:
327088
Concept ID:
C1840389
Disease or Syndrome
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.

Professional guidelines

PubMed

Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068
Miller TM
Muscle Nerve 2008 Mar;37(3):293-9. doi: 10.1002/mus.20923. PMID: 18067134
Jurkat-Rott K, Lehmann-Horn F
Neurotherapeutics 2007 Apr;4(2):216-24. doi: 10.1016/j.nurt.2007.02.001. PMID: 17395131

Recent clinical studies

Etiology

Fialho D, Griggs RC, Matthews E
Handb Clin Neurol 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6. PMID: 29478596
Abraham A, Breiner A, Barnett C, Bril V, Katzberg HD
Muscle Nerve 2018 Jan;57(1):146-149. Epub 2017 Jul 31 doi: 10.1002/mus.25714. PMID: 28561926
Saperstein DS
Semin Neurol 2008 Apr;28(2):260-9. doi: 10.1055/s-2008-1062262. PMID: 18351527
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068
Surtees R
Eur J Pediatr 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. PMID: 11216900

Diagnosis

Vivekanandam V, Jayaseelan D, Hanna MG
Handb Clin Neurol 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. PMID: 37562884
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Fontaine B
Adv Genet 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8. PMID: 19185183
Saperstein DS
Semin Neurol 2008 Apr;28(2):260-9. doi: 10.1055/s-2008-1062262. PMID: 18351527
Heatwole CR, Moxley RT 3rd
Neurotherapeutics 2007 Apr;4(2):238-51. doi: 10.1016/j.nurt.2007.01.012. PMID: 17395134

Therapy

Zukić S, Sinanović O, Alečković-Halilović M, Hodžić R, Kovačević L, Hodžić S
Med Hypotheses 2020 Jun;139:109683. Epub 2020 Mar 19 doi: 10.1016/j.mehy.2020.109683. PMID: 32248037
Yong SL, Sin TH, Tang EB, Chai MC
BMJ Case Rep 2018 Jun 4;2018 doi: 10.1136/bcr-2017-223588. PMID: 29866669Free PMC Article
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068
Layzer RB, Lovelace RE, Rowland LP
Arch Neurol 1967 May;16(5):455-72. doi: 10.1001/archneur.1967.00470230007002. PMID: 6022527

Prognosis

Sender D, Doyal A
BMJ Case Rep 2023 Jan 3;16(1) doi: 10.1136/bcr-2022-251699. PMID: 36596627Free PMC Article
Colucci MC, Triolo MF, Petrucci S, Pugnaloni F, Corsino M, Evangelisti M, D'Asdia MC, Di Nardo G, Garibaldi M, Terrin G, Parisi P
Ital J Pediatr 2022 Jul 15;48(1):116. doi: 10.1186/s13052-022-01315-5. PMID: 35841048Free PMC Article
Jeong HN, Yi JS, Lee YH, Lee JH, Shin HY, Choi YC, Kim SM
Neuromuscul Disord 2018 Oct;28(10):837-845. Epub 2018 Jun 30 doi: 10.1016/j.nmd.2018.06.008. PMID: 30172468
Wood-Allum CA, Shaw PJ
Handb Clin Neurol 2014;120:703-35. doi: 10.1016/B978-0-7020-4087-0.00048-6. PMID: 24365348
Jurkat-Rott K, Lerche H, Lehmann-Horn F
J Neurol 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5. PMID: 12420087

Clinical prediction guides

Vivekanandam V, Seutterlin K, Matthews E, Thornton J, Jayaseelan D, Shah S, Morrow JM, Yousry T, Hanna MG
Muscle Nerve 2023 Oct;68(4):439-450. Epub 2023 Jul 28 doi: 10.1002/mus.27947. PMID: 37515374
Welland NL, Hæstad H, Fossmo HL, Giltvedt K, Ørstavik K, Nordstrøm M
J Neuromuscul Dis 2021;8(4):457-468. doi: 10.3233/JND-200604. PMID: 33646174Free PMC Article
Abraham A, Breiner A, Barnett C, Bril V, Katzberg HD
Muscle Nerve 2018 Jan;57(1):146-149. Epub 2017 Jul 31 doi: 10.1002/mus.25714. PMID: 28561926
Jurkat-Rott K, Lerche H, Lehmann-Horn F
J Neurol 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5. PMID: 12420087
Lehmann-Horn F, Jurkat-Rott K, Rüdel R
Curr Neurol Neurosci Rep 2002 Jan;2(1):61-9. doi: 10.1007/s11910-002-0055-9. PMID: 11898585

Recent systematic reviews

Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...