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Potassium-aggravated myotonia

MedGen UID:
444151
Concept ID:
C2931826
Disease or Syndrome
Synonyms: Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; SODIUM CHANNEL MUSCLE DISEASE
SNOMED CT: Potassium aggravated myotonia (702355008); Sodium channel myotonia (702355008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SCN4A (17q23.3)
 
Monarch Initiative: MONDO:0018959
OMIM®: 608390
Orphanet: ORPHA612

Definition

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]

Additional description

From MedlinePlus Genetics
Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing. Myotonia causes muscle stiffness that worsens after exercise. In this disorder, episodes of myotonia may also be triggered (aggravated) by eating foods that are high in the mineral potassium, such as bananas and potatoes. During these episodes, stiffness occurs in skeletal muscles throughout the body. 

Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness (myotonia fluctuans) to severe, disabling disease with frequent attacks (myotonia permanen). Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.

  https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Muscle stiffness
MedGen UID:
113151
Concept ID:
C0221170
Sign or Symptom
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Myotonia
MedGen UID:
675119
Concept ID:
C0700153
Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Percussion myotonia
MedGen UID:
148293
Concept ID:
C0751359
Finding
A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
Handgrip myotonia
MedGen UID:
357016
Concept ID:
C1868623
Finding
Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.
Laryngospasm
MedGen UID:
44071
Concept ID:
C0023066
Disease or Syndrome
A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.
Stridor
MedGen UID:
11613
Concept ID:
C0038450
Sign or Symptom
Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
Apneic episodes in infancy
MedGen UID:
814310
Concept ID:
C3807980
Finding
Recurrent episodes of apnea occurring during infancy.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPotassium-aggravated myotonia
Follow this link to review classifications for Potassium-aggravated myotonia in Orphanet.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Benhammou JN, Phan J, Lee H, Ghassemi K, Parsons W, Grody WW, Pisegna JR
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Diagnosis

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Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
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Therapy

Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
Acta Myol 2017 Sep;36(3):125-134. Epub 2017 Sep 1 PMID: 29774303Free PMC Article
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Lehmann-Horn F, Orth M, Kuhn M, Jurkat-Rott K
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Weber MA, Nielles-Vallespin S, Essig M, Jurkat-Rott K, Kauczor HU, Lehmann-Horn F
Neurology 2006 Oct 10;67(7):1151-8. Epub 2006 Aug 23 doi: 10.1212/01.wnl.0000233841.75824.0f. PMID: 16931510

Prognosis

Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
Acta Myol 2017 Sep;36(3):125-134. Epub 2017 Sep 1 PMID: 29774303Free PMC Article
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Neuromuscul Disord 2006 May;16(5):321-4. Epub 2006 Apr 19 doi: 10.1016/j.nmd.2006.01.015. PMID: 16624558
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Clinical prediction guides

Desaphy JF, Carbonara R, D'Amico A, Modoni A, Roussel J, Imbrici P, Pagliarani S, Lucchiari S, Lo Monaco M, Conte Camerino D
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Weber MA, Nielles-Vallespin S, Essig M, Jurkat-Rott K, Kauczor HU, Lehmann-Horn F
Neurology 2006 Oct 10;67(7):1151-8. Epub 2006 Aug 23 doi: 10.1212/01.wnl.0000233841.75824.0f. PMID: 16931510
Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ
J Neurosci 1999 Jun 15;19(12):4762-71. doi: 10.1523/JNEUROSCI.19-12-04762.1999. PMID: 10366610Free PMC Article
Wagner S, Deymeer F, Kürz LL, Benz S, Schleithoff L, Lehmann-Horn F, Serdaroğlu P, Ozdemir C, Rüdel R
Muscle Nerve 1998 Sep;21(9):1122-8. doi: 10.1002/(sici)1097-4598(199809)21:9<1122::aid-mus2>3.0.co;2-9. PMID: 9703437

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