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Disease Profile

Potassium aggravated myotonia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

G71.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Myotonia fluctuans; Myotonia permanens; Myotonia congenita, atypical;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary

Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement. The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia.[1] Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium. Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease.[1][2] Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations) in the SCN4A gene.[2] Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine, carbamazapine, or acetazolamide).[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hypertonia
0001276
Myotonia
0002486
30%-79% of people have these symptoms
Elevated serum creatine kinase
Increased serum creatine kinase
Increased serum CK
Increased creatine phosphokinase
Increased serum creatine phosphokinase
Increased creatine kinase
Increased CPK
High serum creatine kinase
Elevated serum creatine phosphokinase
Elevated serum CPK
Elevated creatine kinase
Elevated circulating creatine phosphokinase
Elevated blood creatine phosphokinase

[ more ]

0003236
EMG abnormality
0003457
Feeding difficulties in infancy
0008872
Flexion contracture
Flexed joint that cannot be straightened
0001371
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
5%-29% of people have these symptoms
Asthma
0002099
Chest pain
0100749
Hyperkalemia
Elevated serum potassium levels
0002153
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Muscle spasm
0003394
Muscle weakness
Muscular weakness
0001324
Ophthalmoparesis
Weakness of muscles controlling eye movement
0000597
Respiratory insufficiency
Respiratory impairment
0002093
Skeletal muscle hypertrophy
Increased skeletal muscle cells
0003712
Percent of people who have these symptoms is not available through HPO
Apneic episodes in infancy
0005949
Autosomal dominant inheritance
0000006
Laryngospasm
0025425
Muscle stiffness
0003552
Stridor
0010307

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Potassium aggravated myotonia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Potassium aggravated myotonia. Click on the link to view a sample search on this topic.