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<meta name="keywords" content="C0700153, delayed relaxation of muscle fibers after contraction, delayed relaxation of muscle fibres after contraction, finding, myotonia, myotonias, myotonus, tonic spasm of muscle, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=675119
|
||
ConceptID=C0700153
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myotonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675119</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0700153</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Myotonias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Tonic spasm of muscle (3434004); Myotonus (3434004); Myotonia (3434004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002486">HP:0002486</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0700153[DISCUI]&test_type=Clinical" ref="ncbi_uid=675119">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=675119" ref="ncbi_uid=675119">V</a></span></span><span class="TLline">Myotonia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="matched_ds">Myotonia</span><ul><li><span class="TLline"><a href="/medgen/868288" ref="tree=MeSH" title="MedGen record for Cold-sensitive myotonia">Cold-sensitive myotonia</a></span></li><li><span class="TLline"><a href="/medgen/357016" ref="tree=MeSH" title="MedGen record for Handgrip myotonia">Handgrip myotonia</a></span></li><li><span class="TLline"><a href="/medgen/868292" ref="tree=MeSH" title="MedGen record for Myotonia of the face">Myotonia of the face</a></span></li><li><span class="TLline"><a href="/medgen/868291" ref="tree=MeSH" title="MedGen record for Myotonia of the jaw">Myotonia of the jaw</a></span></li><li><span class="TLline"><a href="/medgen/868290" ref="tree=MeSH" title="MedGen record for Myotonia of the lower limb">Myotonia of the lower limb</a></span></li><li><span class="TLline"><a href="/medgen/868289" ref="tree=MeSH" title="MedGen record for Myotonia of the upper limb">Myotonia of the upper limb</a></span></li><li><span class="TLline"><a href="/medgen/871108" ref="tree=MeSH" title="MedGen record for Myotonia with warm-up phenomenon">Myotonia with warm-up phenomenon</a></span></li><li><span class="TLline"><a href="/medgen/868774" ref="tree=MeSH" title="MedGen record for Paradoxical myotonia">Paradoxical myotonia</a></span></li><li><span class="TLline"><a href="/medgen/148293" ref="tree=MeSH" title="MedGen record for Percussion myotonia">Percussion myotonia</a></span><ul><li><span class="TLline"><a href="/medgen/340037" ref="tree=MeSH" title="MedGen record for Muscle mounding">Muscle mounding</a></span></li><li><span class="TLline"><a href="/medgen/902498" ref="tree=MeSH" title="MedGen record for Percussion-induced rapid rolling muscle contractions">Percussion-induced rapid rolling muscle contractions</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_155852"><div><strong>Congenital myotonia, autosomal recessive form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155852</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751360</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155852">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_314039"><div><strong>Episodic ataxia type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314039</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1720416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314039">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354526"><div><strong>Familial partial lipodystrophy, Dunnigan type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1720860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371441"><div><strong>Brody myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371441</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by Odermatt et al., 2000 and Molenaar et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371441">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322468"><div><strong>Muscular dystrophy, Barnes type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322468</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322468">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374264"><div><strong>X-linked myopathy with excessive autophagy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374264</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015). Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, is a distinct disorder with similar pathologic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374264">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338114"><div><strong>Myopathy, granulovacuolar lobular, with electrical myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338114</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356973"><div><strong>Normokalemic periodic paralysis, potassium-sensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1868433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413748"><div><strong>Hypokalemic periodic paralysis, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413748</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413748">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419686"><div><strong>Richieri Costa-da Silva syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419686</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2930978</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419686">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419137"><div><strong>Myotonic dystrophy type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419137</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle contraction with delayed relaxation) has been reported during the first decade, onset is typically in the third to fourth decade, most commonly with fluctuating or episodic muscle pain that can be debilitating and proximal and axial weakness of the neck flexors and the hip flexors. Subsequently, weakness occurs in the elbow extensors and finger flexors. Facial weakness and weakness of the ankle dorsiflexors are less common. Myotonia rarely causes severe symptoms. In a subset of individuals, calf hypertrophy in combination with brisk reflexes is notable.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419137">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444151"><div><strong>Potassium-aggravated myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444151</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444151">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422446"><div><strong>Congenital myotonia, autosomal dominant form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422446</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2936781</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/422446">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_886881"><div><strong>Steinert myotonic dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>886881</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3250443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/886881">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811387"><div><strong>Hypokalemic periodic paralysis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811387</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811387">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815995"><div><strong>Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815995</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815995">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803541"><div><strong>Stüve-Wiedemann syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803541</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803541">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brody myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myotonia, autosomal dominant form</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myotonia, autosomal recessive form</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815995" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_314039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic ataxia type 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial partial lipodystrophy, Dunnigan type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemic periodic paralysis, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413748" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemic periodic paralysis, type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, Barnes type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, granulovacuolar lobular, with electrical myotonia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myotonic dystrophy type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Normokalemic periodic paralysis, potassium-sensitive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Potassium-aggravated myotonia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Richieri Costa-da Silva syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_886881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steinert myotonic dystrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stüve-Wiedemann syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked myopathy with excessive autophagy</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/32270509">Guidelines on clinical presentation and management of nondystrophic myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stunnenberg BC,
|
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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</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2020 Oct;62(4):430-444.
|
||
Epub 2020 May 27
|
||
doi: 10.1002/mus.26887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32270509" target="_blank">32270509</a><a href="/pmc/articles/PMC8117169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29695755">Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coote DJ,
|
||
Davis MR,
|
||
Cabrera M,
|
||
Needham M,
|
||
Laing NG,
|
||
Nowak KJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Jul;26(7):1072-1077.
|
||
Epub 2018 Apr 26
|
||
doi: 10.1038/s41431-017-0065-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29695755" target="_blank">29695755</a><a href="/pmc/articles/PMC6018704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2888999">Treatment of myotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bretag AH</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1987 Oct 3;2(8562):791-2.
|
||
doi: 10.1016/s0140-6736(87)92514-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2888999" target="_blank">2888999</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22myotonia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (52)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174243">Pediatric neuromuscular channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Munot P,
|
||
Jayaseelan DL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:111-122.
|
||
doi: 10.1016/B978-0-323-90820-7.00011-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174243" target="_blank">39174243</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703462">Skeletal Muscle Channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Munot P,
|
||
Hanna MG,
|
||
Matthews E</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):481-491.
|
||
doi: 10.1016/j.ncl.2020.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703462" target="_blank">32703462</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26042909">Neonatal hypotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sparks SE</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2015 Jun;42(2):363-71, ix.
|
||
doi: 10.1016/j.clp.2015.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26042909" target="_blank">26042909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25037080">A pattern recognition approach to patients with a suspected myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barohn RJ,
|
||
Dimachkie MM,
|
||
Jackson CE</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2014 Aug;32(3):569-93, vii.
|
||
doi: 10.1016/j.ncl.2014.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25037080" target="_blank">25037080</a><a href="/pmc/articles/PMC4233647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18206787">Channelopathies: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernard G,
|
||
Shevell MI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2008 Feb;38(2):73-85.
|
||
doi: 10.1016/j.pediatrneurol.2007.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18206787" target="_blank">18206787</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (319)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37562884">Muscle channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Jayaseelan D,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;195:521-532.
|
||
doi: 10.1016/B978-0-323-98818-6.00006-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37562884" target="_blank">37562884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33958356">Grip myotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yanagita Y,
|
||
Shikino K,
|
||
Ikusaka M</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 May 6;14(5)
|
||
doi: 10.1136/bcr-2020-240779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33958356" target="_blank">33958356</a><a href="/pmc/articles/PMC8103832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32270509">Guidelines on clinical presentation and management of nondystrophic myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">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</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2020 Oct;62(4):430-444.
|
||
Epub 2020 May 27
|
||
doi: 10.1002/mus.26887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32270509" target="_blank">32270509</a><a href="/pmc/articles/PMC8117169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18206787">Channelopathies: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernard G,
|
||
Shevell MI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2008 Feb;38(2):73-85.
|
||
doi: 10.1016/j.pediatrneurol.2007.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18206787" target="_blank">18206787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/392333">Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glasberg MR</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
1979 Dec;5(6):747-58.
|
||
doi: 10.1227/00006123-197912000-00017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/392333" target="_blank">392333</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (779)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36512979">Drug repurposing in skeletal muscle ion channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altamura C,
|
||
Saltarella I,
|
||
Campanale C,
|
||
Laghetti P,
|
||
Desaphy JF</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pharmacol</span>
|
||
2023 Feb;68:102329.
|
||
Epub 2022 Dec 10
|
||
doi: 10.1016/j.coph.2022.102329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36512979" target="_blank">36512979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36537980">Muscle Channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trivedi JR</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Dec 1;28(6):1778-1799.
|
||
doi: 10.1212/CON.0000000000001183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36537980" target="_blank">36537980</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32270509">Guidelines on clinical presentation and management of nondystrophic myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">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</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2020 Oct;62(4):430-444.
|
||
Epub 2020 May 27
|
||
doi: 10.1002/mus.26887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32270509" target="_blank">32270509</a><a href="/pmc/articles/PMC8117169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24136299">Update in electromyography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pitt M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2013 Dec;25(6):676-81.
|
||
doi: 10.1097/MOP.0000000000000023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24136299" target="_blank">24136299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4327027">Cramps.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Layzer RB,
|
||
Rowland LP</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1971 Jul 1;285(1):31-40.
|
||
doi: 10.1056/NEJM197107012850109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4327027" target="_blank">4327027</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (415)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174252">Inherited myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suetterlin K,
|
||
Mӓnnikkӧ R,
|
||
Jayaseelan DL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:25-38.
|
||
doi: 10.1016/B978-0-323-90820-7.00008-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174252" target="_blank">39174252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26042909">Neonatal hypotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sparks SE</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2015 Jun;42(2):363-71, ix.
|
||
doi: 10.1016/j.clp.2015.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26042909" target="_blank">26042909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24136299">Update in electromyography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pitt M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2013 Dec;25(6):676-81.
|
||
doi: 10.1097/MOP.0000000000000023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24136299" target="_blank">24136299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12420087">Skeletal muscle channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurkat-Rott K,
|
||
Lerche H,
|
||
Lehmann-Horn F</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2002 Nov;249(11):1493-502.
|
||
doi: 10.1007/s00415-002-0871-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12420087" target="_blank">12420087</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3309651">AAEE minimonograph #27: differential diagnosis of myotonic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Streib EW</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1987 Sep;10(7):603-15.
|
||
doi: 10.1002/mus.880100704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3309651" target="_blank">3309651</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (194)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174252">Inherited myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suetterlin K,
|
||
Mӓnnikkӧ R,
|
||
Jayaseelan DL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:25-38.
|
||
doi: 10.1016/B978-0-323-90820-7.00008-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174252" target="_blank">39174252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37584878">Afterdischarges in myotonic dystrophy type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Chen X,
|
||
Wu R</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2024 Feb;45(2):735-740.
|
||
Epub 2023 Aug 16
|
||
doi: 10.1007/s10072-023-07013-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37584878" target="_blank">37584878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
|
||
Zhang Y,
|
||
He J,
|
||
Huang K</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2022;56(3):163-173.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1159/000524734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24136299">Update in electromyography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pitt M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2013 Dec;25(6):676-81.
|
||
doi: 10.1097/MOP.0000000000000023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24136299" target="_blank">24136299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12420087">Skeletal muscle channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurkat-Rott K,
|
||
Lerche H,
|
||
Lehmann-Horn F</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2002 Nov;249(11):1493-502.
|
||
doi: 10.1007/s00415-002-0871-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12420087" target="_blank">12420087</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (363)</a></div></div>
|
||
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|
||
|
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<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/36897899">COVID-19 and myotonic dystrophy: Case reports and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzitelli M,
|
||
Trevenzoli M,
|
||
Brundu M,
|
||
Squarzoni G,
|
||
Cattelan AM</span><br />
|
||
<span class="medgenPMjournal">J Infect Dev Ctries</span>
|
||
2023 Feb 28;17(2):182-187.
|
||
doi: 10.3855/jidc.15653.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36897899" target="_blank">36897899</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
|
||
Zhang Y,
|
||
He J,
|
||
Huang K</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2022;56(3):163-173.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1159/000524734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34216625">Association of Helicobacter pylori treatment with Parkinsonism and related disorders: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bai F,
|
||
Li X</span><br />
|
||
<span class="medgenPMjournal">Life Sci</span>
|
||
2021 Sep 15;281:119767.
|
||
Epub 2021 Jul 1
|
||
doi: 10.1016/j.lfs.2021.119767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34216625" target="_blank">34216625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18206787">Channelopathies: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernard G,
|
||
Shevell MI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2008 Feb;38(2):73-85.
|
||
doi: 10.1016/j.pediatrneurol.2007.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18206787" target="_blank">18206787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16437496">Drug treatment for myotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trip J,
|
||
Drost G,
|
||
van Engelen BG,
|
||
Faber CG</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2006 Jan 25;2006(1):CD004762.
|
||
doi: 10.1002/14651858.CD004762.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16437496" target="_blank">16437496</a><a href="/pmc/articles/PMC9036524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0700153%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
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<li><a href="/gtr/tests?term=C0700153%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0700153%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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