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what is 'potassium-aggravated myotonia - genetic disorder affecting skeletal muscles '?
Definition for potassium-aggravated myotonia
Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle. Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.
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Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle. Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes painless muscle stiffness that worsens after exercise and may be aggravated by eating potassium-rich foods such as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.
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do i have 'potassium-aggravated myotonia'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'potassium-aggravated myotonia'
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9
diagnostic tests
Molecular Genetic Studies
potassium-aggravated myotonia and Molecular Genetic Studies
Complete metabolic panel
potassium-aggravated myotonia and Complete metabolic panel
Muscle cooling
potassium-aggravated myotonia and Muscle cooling
Electromyogram (EMG)
potassium-aggravated myotonia and Electromyogram (EMG)
Exercise test in periodic paralyses
potassium-aggravated myotonia and Exercise test in periodic paralyses
Nerve conduction studies (NCS)
potassium-aggravated myotonia and Nerve conduction studies (NCS)
Provocative testing in periodic paralysis
potassium-aggravated myotonia and Provocative testing in periodic paralysis
serum potassium
potassium-aggravated myotonia and serum potassium
serum electrolytes
potassium-aggravated myotonia and serum electrolytes
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therapeutic procedures for 'potassium-aggravated myotonia'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for potassium-aggravated myotonia:
therapeutic procedure search results for 'potassium-aggravated myotonia'
rankings are computer generated. please consult your health care provider.
medications search results for 'potassium-aggravated myotonia'
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2
medications
rankings are computer generated. please consult your health care provider.
mexiletine
potassium-aggravated myotonia and mexiletine
hydrochlorothiazide
potassium-aggravated myotonia and hydrochlorothiazide
web search results for 'potassium-aggravated myotonia'?
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- potassium-aggravated myotonia
Potassium-aggravated myotonia - Wikipedia, the free encyclopedia
Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle. ... Mutations in the SCN4A gene cause potassium-aggravated myotonia. ...
http://en.wikipedia.org/wiki/Potassium-aggravated_myotonia
en.wikipedia.org
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summary
Potassium-aggravated myotonia - Genetics Home Reference
Potassium-aggravated myotonia is a disorder that affects muscles used for ... Mutations in the SCN4A gene cause potassium-aggravated myotonia. ...
http://ghr.nlm.nih.gov/condition=potassiumaggravatedmyotonia
ghr.nlm.nih.gov
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Potassium-aggravated myotonia - References - Genetics Home Reference
... Home Reference condition summary on potassium-aggravated myotonia. ... Familial cramp due to potassium-aggravated myotonia. J Neurol Neurosurg Psychiatry. ...
http://ghr.nlm.nih.gov/condition=potassiumaggravatedmyotonia/show/References
ghr.nlm.nih.gov
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Potassium-aggravated myotonia - Educational resources - Information ...
Genetic Conditions > potassium-aggravated myotonia > Educational resources ... the Genetics Home Reference condition summary on potassium-aggravated myotonia. ...
http://ghr.nlm.nih.gov/condition=potassiumaggravatedmyotonia...
ghr.nlm.nih.gov
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summary
Potassium-aggravated myotonia - MedlinePlus - Health information ...
Genetic Conditions > potassium-aggravated myotonia > MedlinePlus - Health ... the Genetics Home Reference condition summary on potassium-aggravated myotonia. ...
http://ghr.nlm.nih.gov/condition=potassiumaggravatedmyotonia/show/MedlinePlus
ghr.nlm.nih.gov
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Potassium-aggravated myotonia - Patient support - For patients and ...
Genetic Conditions > potassium-aggravated myotonia > Patient support - For ... the Genetics Home Reference condition summary on potassium-aggravated myotonia. ...
http://ghr.nlm.nih.gov/condition=potassiumaggravatedmyotonia...
ghr.nlm.nih.gov
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Potassium-aggravated myotonia - Related Gene(s) - Genetics Home Reference
Genetic Conditions > potassium-aggravated myotonia > Related Gene(s) ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=potassiumaggravatedmyotonia...
ghr.nlm.nih.gov
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Hyperkalemic Periodic Paralysis Type 1 -- GeneReviews -- NCBI Bookshelf
Individuals with potassium-aggravated myotonia develop severe stiffness ... Familial cramp due to potassium-aggravated myotonia. J Neurol Neurosurg Psychiatry. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hyper-pp
www.ncbi.nlm.nih.gov
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Orphanet: Potassium aggravated myotonia
Potassium-aggravated myotonia is a disorder of the muscle sodium channel ... Potassium-aggravated myotonia is an autosomal dominant disease caused by ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=612
www.orpha.net
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Talk:Potassium-aggravated myotonia - Wikipedia, the free encyclopedia
Talk:Potassium-aggravated myotonia. From Wikipedia, the free encyclopedia ... Retrieved from "http://en.wikipedia.org/wiki/Talk:Potassium-aggravated_myotonia" ...
http://en.wikipedia.org/wiki/Talk:Potassium-aggravated_myotonia
en.wikipedia.org
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Myotonia Congenita -- GeneReviews -- NCBI Bookshelf
Potassium-aggravated myotonia is a diverse group of rare sodium channel (SCN4A) disorders. ... are absent, sodium channel (potassium-aggravated) myotonia may ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myotonia-c
www.ncbi.nlm.nih.gov
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Myotonia - Wikipedia, the free encyclopedia
Myotonia can affect all muscle groups, however the pattern of ... Myotonia congenita. Potassium-aggravated myotonia. Myotonic dystrophy [edit] External links ...
http://en.wikipedia.org/wiki/Myotonia
en.wikipedia.org
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MedlinePlus: Muscle Disorders
Myotonia(National Institute of Neurological Disorders and Stroke) ... Genetics Home Reference: Potassium-aggravated myotonia(National Library of Medicine) ...
http://www.nlm.nih.gov/medlineplus/muscledisorders.html
www.nlm.nih.gov
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Myotonia Congenita
Potassium-aggravated myotonia is a diverse group of rare sodium channel (SCN4A) disorders. ... are absent, sodium channel (potassium-aggravated) myotonia may ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Paramyotonia congenita - Wikipedia, the free encyclopedia
Also diagnosed as a Potassium-aggravated myotonia. Original case reports unpublished. ... A novel SCN4A mutation causing myotonia aggravated by cold and potassium. ...
http://en.wikipedia.org/wiki/Paramyotonia_congenita
en.wikipedia.org
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K-aggravated myotonia mutations at residue G1306 differentially alter ...
Department of Biology, Idaho State University, Pocatello, ID, 83209 ... (hNaV1.4) and potassium-aggravated myotonia (PAM) mutations G1306A, G1306E, and G1306V. ...
http://www.ncbi.nlm.nih.gov/pubmed/16392038?ordinalpos=5&ito...
www.ncbi.nlm.nih.gov
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Hypokalemic Periodic Paralysis -- GeneReviews -- NCBI Bookshelf
Potassium-aggravated myotonias (PAM) and related disorders. ... (myotonia fluctuans) or be permanent (myotonia permanens) and/or be aggravated by ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.hpp
www.ncbi.nlm.nih.gov
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Chromosome 17 - Conditions related to genes on chromosome 17 - Genetics ...
potassium-aggravated myotonia. pyridoxal 5'-phosphate-dependent epilepsy. short QT syndrome ... very long-chain acyl-coenzyme A dehydrogenase deficiency ...
http://ghr.nlm.nih.gov/chromosome=17/show/Conditions
ghr.nlm.nih.gov
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Accès au résumé PubMed / to PubMed abstract
18166706 2008 01 01 2008 02 07 1526-632X 70 1 2008 Jan 1 Neurology What causes ... previously described with potassium-aggravated myotonia (G1306A, G1306E) ...
http://www.ncbi.nlm.nih.gov/pubmed/18166706?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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Myotonic Disorders - Genetics Home Reference
Related topics on Genetics Home Reference: myotonia congenita. myotonic dystrophy ... potassium-aggravated myotonia ... Lister Hill National Center for ...
http://ghr.nlm.nih.gov/conditionGroup=myotonicdisorders
ghr.nlm.nih.gov
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Severe neonatal non-dystrophic myotonia secondary to a novel mutation ...
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the ... or hypokalemic periodic paralysis, and potassium-aggravated myotonias. ...
http://www.ncbi.nlm.nih.gov/pubmed/18203179?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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SCN4A - sodium channel, voltage-gated, type IV, alpha subunit ...
potassium-aggravated myotonia - caused by mutations in the SCN4A gene ... underlie the muscle stiffness characteristic of potassium-aggravated myotonia. ...
http://ghr.nlm.nih.gov/gene=scn4a
ghr.nlm.nih.gov
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SCN4A - Related Condition(s) - Genetics Home Reference
potassium-aggravated myotonia. other disorders. Reviewed: April 2007. Published: April 10, 2009. Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/gene=scn4a/show/Related+Condition(s)
ghr.nlm.nih.gov
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PMID 8902732
... (hyperPP), paramyotonia congenita (PC) and potassium-aggravated myotonia (PAM) ... Health Female Genotype Humans Male Middle Aged Molecular Sequence Data Myotonia ...
http://www.ncbi.nlm.nih.gov/pubmed/8902732
www.ncbi.nlm.nih.gov
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Neuromuscular Disorders - Genetics Home Reference
myotonia congenita. myotonic dystrophy. neurofibromatosis type 1 ... potassium-aggravated myotonia. spastic paraplegia type 2. spastic paraplegia type 3A ...
http://ghr.nlm.nih.gov/medlineplusTopic=neuromusculardisorders
ghr.nlm.nih.gov
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Search Results - Genetics Home Reference
potassium-aggravated myotonia. Condition summary. Related classification: Myotonic Disorders ... Found: ...Myotonia is a characteristic feature of myotonic ...
http://ghr.nlm.nih.gov/search?query="Myotonic+Disorders"
ghr.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ...
Hits Mots-clés -446 1.44% orphanet 319 1.03% vitiligo 185 0.60% brugada syndrome ... 0.01% atypischer nävus 2 0.01% augmentation du taux de potassium sanguin 2 0.01 ...
http://orphanet.orpha.net/stat/orphanet/search_200607.html
orphanet.orpha.net
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Hyperkalemic Periodic Paralysis Type 1
... Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and. potassium. ... Familial cramp due to potassium-aggravated. myotonia. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Muscle Disorders - Genetics Home Reference
myotonia congenita. myotonic dystrophy. neutral lipid storage ... potassium-aggravated myotonia. tibial muscular dystrophy. X-linked myotubular myopathy ...
http://ghr.nlm.nih.gov/conditionGroup=muscledisorders
ghr.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2007 ...
Période du résumé: Mars 2007 - Mots-clés. Généré le 01-Apr-2007 22:46 CEST. Hits Mots-clés -1188 1.57% ectrodactilia 580 0.76% adrenoleucodistrofia 473 0.62 ...
http://orphanet.orpha.net/stat/orphanet/search_200703.html
orphanet.orpha.net
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SCN gene family - Genetics Home Reference
Genes in the SCN family provide instructions for making sodium channels. ... potassium-aggravated myotonia. Romano-Ward syndrome ...
http://ghr.nlm.nih.gov/geneFamily=scn
ghr.nlm.nih.gov
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E Fujimoto - NextBio
K-aggravated myotonia mutations at residue G1306 differentially alter ... (hNaV1.4) and potassium-aggravated myotonia (PAM) mutations G1306A, G1306E, and G1306V. ...
http://www.nextbio.com/b/literature/literature.nb?author=E+Fujimoto
www.nextbio.com
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Neurologic Diseases - Genetics Home Reference
myotonia congenita. myotonic dystrophy. neurofibromatosis type 1. neurofibromatosis type 2 ... potassium-aggravated myotonia. Prader-Willi syndrome. prion disease ...
http://ghr.nlm.nih.gov/medlineplusTopic=neurologicdiseases
ghr.nlm.nih.gov
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PubMed-Link Search Results - Genetics Home Reference
Searched for links to PubMed ID 10366610. 2 results found on Genetics Home Reference. potassium-aggravated myotonia. Condition summary ...
http://ghr.nlm.nih.gov/search/term=10366610?area=pubmed-id
ghr.nlm.nih.gov
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PubMed-Link Search Results - Genetics Home Reference
Condition summary. potassium-aggravated myotonia. Condition summary. Published: April 10, 2009. Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/search/term=11102465?area=pubmed-id
ghr.nlm.nih.gov
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Congenital Myasthenic Syndromes -- GeneReviews -- NCBI Bookshelf
Alternatively or in addition, the potassium channel blocker 3,4-diaminopyridine ... potassium-aggravated myotonia, paramyotonia congenita, and hyperkalemic periodic ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cms
www.ncbi.nlm.nih.gov
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Esther Fujimoto - NextBio
K-aggravated myotonia mutations at residue G1306 differentially alter ... (hNaV1.4) and potassium-aggravated myotonia (PAM) mutations G1306A, G1306E, and G1306V. ...
http://www.nextbio.com/b/literature/literature.nb?author=Esther+Fujimoto
www.nextbio.com
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Files Previously Added, Updated, or Revised
Skip to Content. United States National Library of Medicine National ... Reference: Myotonia congenita (04 ... Reference: Potassium-aggravated myotonia (04 ...
http://www.nlm.nih.gov/news/new_files2007.html
www.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2007 ...
Hits Mots-clés -782 1.04% adrenoleucodistrofia 516 0.69% orphanet 255 0.34 ... polyradiculonevrite 5 0.01% potassium-aggravated myotonia 5 0.01% proteina c ...
http://www.orpha.net/stat/orphanet/search_200704.html
www.orpha.net
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Congenital Myasthenic Syndromes
... of disorders of muscle membrane excitability: potassium-aggravated ... excitability: potassium-aggravated myotonia, paramyotonia congenita, and hyperkalemic ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Hypokalemic Periodic Paralysis
Potassium-aggravated myotonias (PAM) and related disorders. This group of ... permanent (myotonia permanens) and/or be aggravated by potassium. They may ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Bones, muscles, and connective tissues - Genetics Home Reference
PAM see potassium-aggravated myotonia ... potassium-aggravated myotonia. PPS see popliteal pterygium syndrome ... myotonia see potassium-aggravated myotonia ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/bonesmu...
ghr.nlm.nih.gov
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MA Weber - NextBio
You must enable JavaScript to run the NextBio application. author ... and potassium-aggravated myotonia are caused by gain-of-function Na+ channel mutations. ...
http://www.nextbio.com/b/literature/literature.nb?author=MA+Weber
www.nextbio.com
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Search Results - Genetics Home Reference
myotonia congenita. Condition summary. Found in link title: Muscle ... potassium-aggravated myotonia. Condition summary. Found in link title: Muscle Disorders ...
http://ghr.nlm.nih.gov/ghr/search?query="Muscle+Disorders"&show=conditions
ghr.nlm.nih.gov
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MIM Gene map
... congenita,168300 (3); Myotonia congenita, atypical, acetazolamide ... (3); Cramps, familial, potassium-aggravated (3); Hypokalemic periodic paralysis, ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l146630
www.ncbi.nlm.nih.gov
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Nav1.4 - Wikipedia, the free encyclopedia
... paramyotonia congenita, and potassium-aggravated myotonia. ... A novel SCN4A mutation causing myotonia aggravated by cold and potassium.". Hum. Mol. ...
http://en.wikipedia.org/wiki/Nav1.4
en.wikipedia.org
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MIM Gene map
... congenita,168300 (3); Myotonia congenita, atypical, acetazolamide ... (3); Cramps, familial, potassium-aggravated (3); Hypokalemic periodic paralysis, ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l160980
www.ncbi.nlm.nih.gov
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MIM Gene map
... congenita,168300 (3); Myotonia congenita, atypical, acetazolamide ... (3); Cramps, familial, potassium-aggravated (3); Hypokalemic periodic paralysis, ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l600453
www.ncbi.nlm.nih.gov
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MIM Gene map
... congenita,168300 (3); Myotonia congenita, atypical, acetazolamide ... (3); Cramps, familial, potassium-aggravated (3); Hypokalemic periodic paralysis, ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l600685
www.ncbi.nlm.nih.gov
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Talk:Myotonia - Wikipedia, the free encyclopedia
Myotonia is also seen in paramyotonia congenita and potassium-aggravated myotonia (among others) ... from disorders involving myotonia can have a life ...
http://en.wikipedia.org/wiki/Talk:Myotonia
en.wikipedia.org
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quick facts
category
genetic or congenital
muscles
neurology
frequency
rare (U.S.)
likelihood by age
likelyhood by duration of symptoms
some common symptoms
continuous muscle contractions with activity
muscle cramps worse on eating potassium containing food
some related diagnoses
graphospasm
dystonia musculorum deformans
paramyotonia congenita
neuroacanthocytosis
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