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Disease Profile
Potassium aggravated myotonia
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
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 |
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 | |
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.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include myotonia congenita (see this term), and cold sensitive myotonias such as paramyotonia congenita and hyperkalemic periodic paralysis with paramyotonia (see these terms).
Visit the Orphanet disease page for more information.
|
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.
References
- Potassium-aggravated myotonia. Orphanet. October 2010; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=610&Disease_Disease_Search_diseaseGroup=612&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group of diseases=Potassium-aggravated-myotonia&title=Potassium-aggravated-myotonia&search=Disease_Search_Simple. Accessed 4/17/2012.
- Potassium-aggravated myotonia. Genetics Home Reference. April 2007; https://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia. Accessed 4/17/2012.