Myotonia: Causes & Reasons

Possible Causes for Myotonia

Abstract The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, or both. [pubmed.ncbi.nlm.nih.gov]

Common clinical features and electrophysiological patterns of the sub-groups of non-dystrophic myotonia Recessive myotonia congenita Dominant myotonia congenita Paramyotonia [medscape.com]

Potassium-Aggravated Myotonia

myotonia. [periodicparalysis.org]

Myotonia? [dovemed.com]

Potassium-aggravated myotonia may, in some cases, also cause paradoxical myotonia, in which myotonia becomes more severe at the time of movement instead of after movement [en.wikipedia.org]

Paramyotonia Congenita

Individuals with clinical signs and symptoms of myotonic syndromes may benefit from diagnostic genetic testing to confirm the diagnosis, provide anticipatory guidance, help [invitae.com]

Many etiologies result in myotonia, including dystrophic and non-dystrophic myotonias. [statpearls.com]

[…] forms of myotonia. [invitae.com]

Myotonia Congenita

Skip to content Myotonia Congenita Myotonia CongenitaBoris M Struk2018-06-28T16:08:57+10:00 Myotonia Congenita What is Myotonia Congenita? [mda.org.au]

Mutations in the CLCN1 gene cause myotonia congenita. [ghr.nlm.nih.gov]

MYOTONIA CONGENITA (CONGENITAL MYOTONIA) The non-dystrophic myotonias are skeletal muscle ion channel disorders traditionally considered to be distinct from myotonic dystrophy [myotonia.com.hr]

Myotonia Congenita Type Thomsen

[Article in German] Affiliations PMID: 8114977 Review [Myotonia congenital (Thomsen) and recessive generalized myotonia (Becker)] [Article in German] E Kuhn. [pubmed.ncbi.nlm.nih.gov]

The models have been very helpful in research into the origins of myotonia. [ncbi.nlm.nih.gov]

What is Myotonia Congenita? [mda.org.nz]

Acetazolamide-Responsive Myotonia

SCN4A, CLCN1, DMPK Specificity 34 % Genes 100 % Myotonic Syndrome Advanced Evaluation. By Athena Diagnostics Inc (United States). [mendelian.co]

myotonia congenita. [pubmed.ncbi.nlm.nih.gov]

Additional clinical signs include generalized muscle hypertrophy, percussion myotonia of proximal upper extremity muscles, thenar eminence and tongue and myotonia in the eyelids [orpha.net]

Myotonia permanens

The patients have severe myotonia, but the clinical picture is not qualitatively different from that seen in other nondystrophic myotonias. [pubmed.ncbi.nlm.nih.gov]

SCN4A, CLCN1, DMPK Specificity 34 % Genes 100 % Myotonic Syndrome Advanced Evaluation. By Athena Diagnostics Inc (United States). [mendelian.co]

myotonia. [neuroweb.us]

Myotonia Levior

Two variants: - fluctuating congenital myotonia: starts later (end of first decade) and the crises of myotonia are more rare but painful and mainly located in the lower limbs [sites.uclouvain.be]

(PAM) AZM-responsive myotonia myotonia fluctuans and myotonia permanens hyperkalemic periodic paralysis (HyperPP) 4 Caveats marked phenotypic variability within and between [powershow.com]

Abstract Two family are described affected by a mild myotonic syndrome, characterized by almost exclusively presence of myotonic phenomenon, in absence of symptoms as muscular [pubmed.ncbi.nlm.nih.gov]

Muscular Dystrophy

Adults with type 1 myotonic dystrophy may develop cataracts, hand and lower leg weakness and wasting (loss of muscle mass), and grip myotonia. [jamanetwork.com]

Myotonia The increased muscle tone of myotonic muscular dystrophy is described as myotonia, and it manifests as a prolonged contraction and slowed relaxation of the muscles [verywellhealth.com]

Learn about this topic in these articles: characteristics In myotonia Myotonia congenita and myotonic muscular dystrophy are usually caused by a mutation or other abnormality [britannica.com]

Andersen-Tawil Syndrome

[…] congenita, Myotonia congenita, Myotonia levior AD/AR 86 313 KCNJ2 Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillation AD 41 93 SCN4A Hyperkalemic [blueprintgenetics.com]

The second study identified gain-of-function changes for a NaV1.4 mutation associated with an unusually early onset of myotonia with congenital anomalies, and defined a new [escholarship.org]

Clinically, patients with myotonia show muscle stiffness. Myotonia congenita (MC) is an inherited muscle disorder whose main manifestation is myotonia. [rarediseasesnetwork.epi.usf.edu]

Secondary Myopathy

[…] cells Antimicrotubular Colchicine Vincristine Acute or insidious onset Proximal and distal weakness Myalgias Sensorimotor neuropathy Normal or elevated CK EMG: fibs, PSWs, myotonia [neurology.mhmedical.com]

Blepharospasm-like myotonia and strabismic deviations are reported in Thomsen’s myotonia congenita. [neuroophthalmology.ca]

Myotonia: DM2, myotonia congenita. [sites.google.com]

Muscular Dystrophy-Dystroglycanopathy Type C7

Muscular Dystrophy Malignant Hyperthermia Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Methylmalonic Acidemia Muscular Dystrophy Myasthenic Syndrome Myopathy Myotonia [preventiongenetics.com]

Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? [doi.org]

Treatment of myotonia with antiarrhythmic drugs. Acta Neurol Scand. 1992;86:371–5. PubMed CrossRef Google Scholar 61. [doi.org]

Oculo-Pharyngo-Distal Myopathy

No longer are myotonia, periodic paralysis, and malignant hyperthermia untreatable medical curiosities. [books.google.com]

I would like to confirm my diagnosis by demonstrating electrical myotonia with electromyography. [evidencereviewed.com]

Myotonia is due to repetitive depolarization of the muscle membrane. [slideplayer.com]

Erb Muscular Dystrophy

The disorder causes myotonia. Myotonia is the delayed ability to relax the muscles after contracting them. [msdmanuals.com]

[…] congenita G71.13 Myotonic chondrodystrophy G71.14 Drug induced myotonia G71.19 Other specified myotonic disorders Reimbursement claims with a date of service on or after [icd10data.com]

Myotonic muscular dystrophy affects adults of both sexes, with myotonia and degeneration two to three years later, along with cataracts, baldness, and gonadal atrophy. [seslisozluk.net]

Emery-Dreifuss Muscular Dystrophy Type 1

[…] limiting myotonia. [merckmanuals.com]

The disease has three major subtypes: Mild DM1, characterized by cataract and mild myotonia and normal life span Classic DM1, characterized by myotonia, cataracts, muscle [centogene.com]

Myotonia is only found in this type of muscular dystrophy. [dropfootorthotics.com]

Limb-Girdle Muscular Dystrophy Type 1E

The disease has three major subtypes: Mild DM1, characterized by cataract and mild myotonia and normal life span Classic DM1, characterized by myotonia, cataracts, muscle [centogene.com]

Introduction Clinical definition a hereditary disorder that results in a number of clinical consequences such as sustained muscle contraction (myotonia) muscle weakness cataracts [medbullets.com]

[…] congenita G71.13 Myotonic chondrodystrophy G71.14 Drug induced myotonia G71.19 Other specified myotonic disorders Reimbursement claims with a date of service on or after [icd10data.com]

Distal Myopathy Type 3

Myotonia is characterized by stiff muscles that take a long time to relax after contraction. It is generally not painful. [healthcommunities.com]

Myotonia: DM2, myotonia congenita. [sites.google.com]

"Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy. [neuroweb.us]

Schwartz-Jampel Syndrome

myotonia in childhood. [neurologyindia.com]

Schwartz-Jampel syndrome (chondrodystrophic myotonia). [jmg.bmj.com]

Schwartz–Jampel Syndrome Mimicking Myotonia Congenita. [neurologyindia.com]

Myotonic Syndrome

Causes Mutations in the CLCN1 gene cause myotonia congenita. [medlineplus.gov]

2) with myotonia. [now.aapmr.org]

Treatments for myotonia are specific to each type: Dystrophic myotonias Treatment of dystrophic myotonias depends on the symptoms. [my.clevelandclinic.org]

Myotonic Dystrophy

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(redirected from myotonia dystrophia ) Curschmann, Heinrich, German physician, 1846-1910. [medical-dictionary.thefreedictionary.com]

Myotonia acquisita, a nonhereditary type of myotonia, does not, in Thomasen's opinion, have sufficient basis for [jamanetwork.com]

Polyglucosan Body Myopathy Type 2

Myotonia, for example, is an electrophysiological finding in some syndromes in which it is un detectable by clinical examination, although the phenomenon itself was originally [books.google.com]

Myotonia: DM2, myotonia congenita. [sites.google.com]

"Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy. [neuroweb.us]

Batten-Turner Congenital Myopathy

T027502] Thomsen's Disease [T027503] Generalized Myotonia of Thomsen [T372041] Becker Generalized Myotonia [T372042] Myotonia, Generalized, Becker [T372043] Generalized Myotonia [medvik.cz]

— Generalized Myotonias — Myotonias, Generalized — Congenital Myotonia — Batten Turner Congenital Myopathy — Myopathy, Congenital — Myotonia Levior — Generalized Myotonia [mesh.kib.ki.se]

Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. [profiles.umassmed.edu]

Neuromuscular Junction Disorder

Weakness is another symptom of the myotonic syndromes; myotonia tends to be more pronounced after inactivity, with a rapid “warm up” on commencing exercise. [britannica.com]

The disease is progressive and cardiac failure may occur. 3.2.2 Myotonia Congenita. [academic.sun.ac.za]

LESS LIKELY: Fred's CK is low for AMD, but this disease sometimes shows myotonia. [mda.org]

Muscular Dystrophy-Dystroglycanopathy Type B6

[…] congenita (Thomsen myotonia); myotonia congenita (Becker myotonia) AD, AR 34 COL6A1 120220 Bethlem myopathy type 1; Ullrich congenital muscular dystrophy AD, AR 37 COL6A2 [centogene.com]

There are also medications that can lessen the myotonia. [genome.gov]

Myotonic Disorders Congenital Myotonic Dystrophy Myotonia Myotonic Dystrophy 3. [mdi.ie]

Limb-Girdle Muscular Dystrophy Type 1G

Wicklund discusses the unlabeled use of prednisone, prednisolone, and deflazacort for the treatment of Duchenne muscular dystrophy and of mexiletine for the treatment of myotonia [journals.lww.com]

DIAGNOSTIC SPECTRUM Muscular Dystrophies Congenital Muscular Dystrophies Congenital Myopathies Distal Myopathies Metabolic Myopathies Other Myopathies HyperCKemias Myotonic [meduniwien.ac.at]

[…] necrosis Proximal lower limb amyotrophy Muscle cramps Diabetes mellitus Optic atrophy Cataract Hypoglycosylation of alpha-dystroglycan Macroglossia Encephalopathy Handgrip myotonia [mendelian.co]

Zebra Body Myopathy

[…] fluctuans Myotonia permanens Myotonic dystrophy Myotonic syndrome Myxofibrosarcoma Native American myopathy Nemaline myopathy Neurogenic scapuloperoneal syndrome, Kaeser [se-atlas.de]

Myotonia, for example, is an electrophysiological finding in some syndromes in which it is un detectable by clinical examination, although the phenomenon itself was originally [books.google.com]

[…] und Poliklinik am Universitätsklinikum Würzburg Assigned diseases: In the following you will find the diseases that are treated in this facility: Acetazolamide-responsive myotonia [se-atlas.de]

Acquired Amyloid Myopathy

Myotonia, for example, is an electrophysiological finding in some syndromes in which it is un detectable by clinical examination, although the phenomenon itself was originally [books.google.com]

Myotonia is an important clue to this diagnosis. [nature.com]

This is the electrical equivalent of clinical myotonia, which is manifested as impaired relaxation of muscles after forceful contraction; for example, patients cannot release [clevelandclinicmeded.com]

Normokalemic Periodic Paralysis

Most gain-of-function mutations in SCN4A result in myotonic syndromes. Myotonia is defined by a delayed relaxation after muscle contraction 9, 10. [doi.org]

The most consistent features were cold-induced myotonia (41%) and painful myotonia (18%). [becomerich.lab.u-ryukyu.ac.jp]

Hyperkalemic Periodic Paralysis

We also report the putative disease-causing mutation in acetazolamide-responsive myotonia congenita, a related disease in which myotonia is worsened by potassium but in which [ncbi.nlm.nih.gov]

As the chloride conductance was normal, myotonia may be best explained with the abnormal reopenings of the Na+ channels. [ncbi.nlm.nih.gov]

Five families with either PC or PC with myotonia permanens had the Thr1313Met mutation indicating that the severity of myotonia and its permanence were variable. [ncbi.nlm.nih.gov]

Familial Periodic Paralysis

myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia), and familial hypokalemic periodic paralysis type 2 (HypoKPP2). [neurology.mhmedical.com]

Skeletal muscle channelopathies, many of which are inherited as autosomal dominant mutations, include myotonia and periodic paralysis. [ncbi.nlm.nih.gov]

Most gain-of-function mutations in SCN4A result in myotonic syndromes. Myotonia is defined by a delayed relaxation after muscle contraction 9, 10. [doi.org]