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<meta name="keywords" content="C1850830, exercise-induced muscle pain, exercise-induced myalgia, finding, muscle pain on exercise, muscle pain with exercise, muscle pain, exercise-induced, sign or symptom, 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="The occurrence of an unusually high amount of muscle pain following exercise." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=340638
|
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ConceptID=C1850830
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Exercise-induced myalgia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340638</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.">C1850830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Exercise-induced muscle pain; Muscle pain with exercise; Muscle pain, exercise-induced</td></tr>
|
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<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:0003738">HP:0003738</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>
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||
<div class="portlet_content ln">The occurrence of an unusually high amount of muscle pain following exercise. [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 mgSection" id="ID_118">
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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="TLline">Exercise-induced myalgia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/272632" ref="tree=MeSH" title="MedGen record for Finding by Site or System">Finding by Site or System</a></span><ul><li><span class="TLline"><a href="/medgen/811354" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Finding">Connective and Soft Tissue Finding</a></span><ul><li><span class="TLline"><a href="/medgen/98090" ref="tree=MeSH" title="MedGen record for Musculoskeletal finding">Musculoskeletal finding</a></span><ul><li><span class="TLline"><a href="/medgen/68541" ref="tree=MeSH" title="MedGen record for Myalgia">Myalgia</a></span><ul><li><span class="matched_ds">Exercise-induced myalgia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_5341"><div><strong>Glycogen storage disease, type V</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5341</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:">C0017924</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms are usually precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second-wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary; however, diagnosis is typically delayed as myalgia and fatigability are dismissed/overlooked. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that can – on occasion – eventually result in acute renal failure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5341">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5342"><div><strong>Glycogen storage disease, type VII</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5342</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.">C0017926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5342">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120613"><div><strong>Glycogen storage disease type X</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120613</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.">C0268149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.\n\nIn some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120613">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75670"><div><strong>Ehlers-Danlos syndrome, type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75670</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.">C0268337</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypermobile Ehlers-Danlos syndrome (hEDS) is characterized by generalized joint hypermobility, joint instability, pain, soft and hyperextensible skin with atrophic scars and easy bruising, dental crowding, abdominal hernias, pelvic organ prolapse, marfanoid body habitus, mitral valve prolapse, and aortic root dilatation. Subluxations, dislocations, and soft tissue injury are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint and chronic soft tissue disorders may arise due to repeated injury. Chronic pain, distinct from that associated with acute injury, is common and often neuropathic in nature. Chronic fatigue, functional bowel disorders, cardiovascular autonomic dysfunction, swallow and phonation disorders, sleep disorders including apnea, migraine, entrapment and peripheral neuropathies, inflammation from mast cell activation disorders, anxiety disorders, and urogynecologic disorders are common. Mitral valve prolapse and aortic root dilatation, when present, are typically of a mild degree with no increased risk of cardiac complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75670">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78750"><div><strong>Sarcotubular myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78750</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.">C0270968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78750">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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/354526">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_371357"><div><strong>Rippling muscle disease 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371357</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.">C1832560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported (Kubisch et al., 2005). Genetic Heterogeneity of Rippling Muscle Disease Another locus for RMD, designated RMD1 (600332), maps to chromosome 1q41.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/371357">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_318881"><div><strong>Proximal myopathy with focal depletion of mitochondria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318881</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.">C1833453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare genetic neuromuscular disease with characteristics of late onset of mild, progressive proximal muscle weakness, severe myalgia during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the centre of muscle fibres, surrounded by enlarged mitochondria at the periphery.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/318881">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324513"><div><strong>Congenital myopathy 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324513</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.">C1836447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.\n\nNemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324513">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324987"><div><strong>Rippling muscle disease 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324987</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.">C1838254</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/324987">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_327082"><div><strong>King Denborough syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327082</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.">C1840365</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">King-Denborough syndrome (KDS) is an autosomal dominant disorder characterized by the triad of congenital myopathy, dysmorphic features, and susceptibility to malignant hyperthermia (summary by Dowling et al., 2011).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/327082">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335112"><div><strong>Glycogen storage disease IXd</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335112</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.">C1845151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that affected individuals need to be monitored for long-term complications such as liver fibrosis and cirrhosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335112">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340597"><div><strong>Congenital multicore myopathy with external ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340597</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.">C1850674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital myopathy-1B (CMYO1B) is an autosomal recessive disorder of skeletal muscle characterized by severe hypotonia and generalized muscle weakness apparent soon after birth or in early childhood with delayed motor development, generalized muscle weakness and atrophy, and difficulty walking or running. Affected individuals show proximal muscle weakness with axial and shoulder girdle involvement, external ophthalmoplegia, and bulbar weakness, often resulting in feeding difficulties and respiratory insufficiency. Orthopedic complications such as joint laxity, distal contractures, hip dislocation, cleft palate, and scoliosis are commonly observed. Serum creatine kinase is normal. The phenotype is variable in severity (Jungbluth et al., 2005; Bharucha-Goebel et al., 2013). Some patients show symptoms in utero, including reduced fetal movements, polyhydramnios, and intrauterine growth restriction. The most severely affected patients present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations can show variable features, including multiminicores (Ferreiro and Fardeau, 2002), central cores (Jungbluth et al., 2002), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340597">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_811508"><div><strong>Muscle AMP deaminase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811508</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.">C3714933</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011). Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/811508">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_815799"><div><strong>Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815799</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.">C3809469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815799">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_854382"><div><strong>Very long chain acyl-CoA dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854382</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.">C3887523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/854382">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_860163"><div><strong>Myopathy, tubular aggregate, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860163</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.">C4011726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate Myopathy See also TAM2 (615883), caused by mutation in the ORAI1 gene (610277) on chromosome 12q24.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/860163">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648451"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648451</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.">C4748830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial complex I deficiency nuclear type 29 (MC1DN29) is an autosomal recessive metabolic disorder that usually presents in childhood, adolescence, or adulthood with exercise intolerance and easy fatigue with myalgias and muscle weakness. However, a severe multisystem presentation with chronic renal failure and cardiomyopathy in infancy has been reported (Sanchez-Caballero et al., 2016; Alston et al., 2016). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648451">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1681269"><div><strong>Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681269</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.">C5193083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation (summary by Almannai et al., 2018).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1681269">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824033"><div><strong>Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824033</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.">C5774260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis-1 (MMCKR1) is an autosomal recessive skeletal muscle disorder characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported. The features remit with rest, but some individuals develop mild proximal or distal muscle weakness. Rare affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. Laboratory studies show increased baseline serum creatine kinase levels with episodic spikes that may coincide with rhabdomyolysis. EMG shows myopathic changes, and muscle biopsy shows nonspecific myopathic or degenerative features (Lopes Abath Neto et al., 2021; Salzer-Sheelo et al., 2022). Genetic Heterogeneity of Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis MMCKR2 (620971) is caused by mutation in the DTNA gene (601239) on chromosome 18q12.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824033">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1841154"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841154</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.">C5830518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-28 (LGMDR28) is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. The age at onset is highly variable, usually in the first decade, although onset in the fourth decade has also been reported. The disorder can be rapidly progressive or show a slower course. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase and elevated fasting blood glucose levels, although cholesterol is normal. EMG shows a myopathic pattern; muscle biopsy is generally unremarkable, but can show nonspecific myopathic or dystrophic features (Yogev et al., 2023; Morales-Rosado et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1841154">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1857169"><div><strong>Neuromuscular disorder, congenital, with dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857169</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.">C5935643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital neuromuscular disorder with dysmorphic facies (NMDF) is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth. Affected individuals may show motor delay, speech delay, and impaired intellectual development. The severity of the disorder is highly variable (Schnabel et al., 2023; Roos et al., 2023).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1857169">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital multicore myopathy with external ophthalmoplegia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 23</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, type 3</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease IXd</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease type X</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease, type V</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease, type VII</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">King Denborough syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681269" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle AMP deaminase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 28</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_860163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, tubular aggregate, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuromuscular disorder, congenital, with dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal myopathy with focal depletion of mitochondria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rippling muscle disease 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rippling muscle disease 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcotubular myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Very long chain acyl-CoA dehydrogenase deficiency</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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37883406">Self-Massage Techniques for the Management of Pain and Mobility With Application to Resistance Training: A Brief Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacLennan M,
|
||
Ramirez-Campillo R,
|
||
Byrne PJ</span><br />
|
||
<span class="medgenPMjournal">J Strength Cond Res</span>
|
||
2023 Nov 1;37(11):2314-2323.
|
||
doi: 10.1519/JSC.0000000000004575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37883406" target="_blank">37883406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28154975">ACTN3 genotype influences exercise-induced muscle damage during a marathon competition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Del Coso J,
|
||
Valero M,
|
||
Salinero JJ,
|
||
Lara B,
|
||
Díaz G,
|
||
Gallo-Salazar C,
|
||
Ruiz-Vicente D,
|
||
Areces F,
|
||
Puente C,
|
||
Carril JC,
|
||
Cacabelos R</span><br />
|
||
<span class="medgenPMjournal">Eur J Appl Physiol</span>
|
||
2017 Mar;117(3):409-416.
|
||
Epub 2017 Feb 2
|
||
doi: 10.1007/s00421-017-3542-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28154975" target="_blank">28154975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18425888">Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quinlivan R,
|
||
Beynon RJ,
|
||
Martinuzzi A</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2008 Apr 16;(2):CD003458.
|
||
doi: 10.1002/14651858.CD003458.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18425888" target="_blank">18425888</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(exercise-induced%20myalgia)%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 (5)</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/36352632">Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahajan S,
|
||
Dhall A,
|
||
Jassal B,
|
||
Saluja A,
|
||
Faruq M,
|
||
Suri V,
|
||
Rajan R,
|
||
Vishnu VY,
|
||
Sharma MC</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2022 Sep-Oct;70(5):2169-2173.
|
||
doi: 10.4103/0028-3886.359155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36352632" target="_blank">36352632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32399949">Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seguí F,
|
||
Gonzalez-Quereda L,
|
||
Sanchez A,
|
||
Matas-García A,
|
||
Garrabou G,
|
||
Rodriguez MJ,
|
||
Gallano P,
|
||
Grau JM,
|
||
Milisenda JC</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2020 Oct;41(10):2967-2971.
|
||
Epub 2020 May 12
|
||
doi: 10.1007/s10072-020-04453-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32399949" target="_blank">32399949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29749052">Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noury JB,
|
||
Zagnoli F,
|
||
Carré JL,
|
||
Drouillard I,
|
||
Petit F,
|
||
Le Maréchal C,
|
||
Marcorelles P,
|
||
Rannou F</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2018 Oct;138(4):301-307.
|
||
Epub 2018 May 10
|
||
doi: 10.1111/ane.12957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29749052" target="_blank">29749052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23934075">Exercise-induced myalgia may limit the cardiovascular benefits of statins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opie LH</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Drugs Ther</span>
|
||
2013 Dec;27(6):569-72.
|
||
doi: 10.1007/s10557-013-6483-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23934075" target="_blank">23934075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22481384">Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michot C,
|
||
Hubert L,
|
||
Romero NB,
|
||
Gouda A,
|
||
Mamoune A,
|
||
Mathew S,
|
||
Kirk E,
|
||
Viollet L,
|
||
Rahman S,
|
||
Bekri S,
|
||
Peters H,
|
||
McGill J,
|
||
Glamuzina E,
|
||
Farrar M,
|
||
von der Hagen M,
|
||
Alexander IE,
|
||
Kirmse B,
|
||
Barth M,
|
||
Laforet P,
|
||
Benlian P,
|
||
Munnich A,
|
||
JeanPierre M,
|
||
Elpeleg O,
|
||
Pines O,
|
||
Delahodde A,
|
||
de Keyzer Y,
|
||
de Lonlay P</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2012 Nov;35(6):1119-28.
|
||
Epub 2012 Apr 6
|
||
doi: 10.1007/s10545-012-9461-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22481384" target="_blank">22481384</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20myalgia%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37679049">CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Periviita V,
|
||
Palmio J,
|
||
Jokela M,
|
||
Hartikainen P,
|
||
Vihola A,
|
||
Rauramaa T,
|
||
Udd B</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Oct 31;101(18):e1779-e1786.
|
||
Epub 2023 Sep 7
|
||
doi: 10.1212/WNL.0000000000207639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37679049" target="_blank">37679049</a><a href="/pmc/articles/PMC10634652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22616958">Myopathic causes of exercise intolerance with rhabdomyolysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quinlivan R,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2012 Oct;54(10):886-91.
|
||
Epub 2012 May 23
|
||
doi: 10.1111/j.1469-8749.2012.04320.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22616958" target="_blank">22616958</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22029705">Episodes of exercise-induced dark urine and myalgia in LGMD 2I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindberg C,
|
||
Sixt C,
|
||
Oldfors A</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2012 Apr;125(4):285-7.
|
||
Epub 2011 Oct 27
|
||
doi: 10.1111/j.1600-0404.2011.01608.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22029705" target="_blank">22029705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10658174">Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabina RL</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2000 Feb;18(1):185-94.
|
||
doi: 10.1016/s0733-8619(05)70184-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10658174" target="_blank">10658174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8124059">Exercise-induced myalgia in hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lochmüller H,
|
||
Reimers CD,
|
||
Fischer P,
|
||
Heuss D,
|
||
Müller-Höcker J,
|
||
Pongratz DE</span><br />
|
||
<span class="medgenPMjournal">Clin Investig</span>
|
||
1993 Dec;71(12):999-1001.
|
||
doi: 10.1007/BF00180031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8124059" target="_blank">8124059</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20myalgia%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 (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29749052">Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noury JB,
|
||
Zagnoli F,
|
||
Carré JL,
|
||
Drouillard I,
|
||
Petit F,
|
||
Le Maréchal C,
|
||
Marcorelles P,
|
||
Rannou F</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2018 Oct;138(4):301-307.
|
||
Epub 2018 May 10
|
||
doi: 10.1111/ane.12957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29749052" target="_blank">29749052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29524782">Treatment with medium chain fatty acids milk of CD36-deficient preschool children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagasaka H,
|
||
Hirano KI,
|
||
Yorifuji T,
|
||
Komatsu H,
|
||
Takatani T,
|
||
Morioka I,
|
||
Hirayama S,
|
||
Miida T</span><br />
|
||
<span class="medgenPMjournal">Nutrition</span>
|
||
2018 Jun;50:45-48.
|
||
Epub 2017 Nov 29
|
||
doi: 10.1016/j.nut.2017.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29524782" target="_blank">29524782</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25466697">Myopathy during treatment with the antianginal drug ranolazine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kassardjian CD,
|
||
Tian X,
|
||
Vladutiu G,
|
||
Wong LJ,
|
||
Milone M</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2014 Dec 15;347(1-2):380-2.
|
||
Epub 2014 Oct 31
|
||
doi: 10.1016/j.jns.2014.10.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25466697" target="_blank">25466697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23934075">Exercise-induced myalgia may limit the cardiovascular benefits of statins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opie LH</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Drugs Ther</span>
|
||
2013 Dec;27(6):569-72.
|
||
doi: 10.1007/s10557-013-6483-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23934075" target="_blank">23934075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11071586">The clinical patterns of myalgia in children with familial Mediterranean fever.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Majeed HA,
|
||
Al-Qudah AK,
|
||
Qubain H,
|
||
Shahin HM</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2000 Oct;30(2):138-43.
|
||
doi: 10.1053/sarh.2000.16646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11071586" target="_blank">11071586</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20myalgia%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32483371">The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noury JB,
|
||
Zagnoli F,
|
||
Petit F,
|
||
Le Maréchal C,
|
||
Marcorelles P,
|
||
Rannou F</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 Jun 1;10(1):8865.
|
||
doi: 10.1038/s41598-020-65797-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32483371" target="_blank">32483371</a><a href="/pmc/articles/PMC7264313" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29078790">Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fusco C,
|
||
Spagnoli C,
|
||
Salerno GG,
|
||
Pavlidis E,
|
||
Frattini D,
|
||
Pisani F</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2017 Oct 27;43(1):97.
|
||
doi: 10.1186/s13052-017-0414-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29078790" target="_blank">29078790</a><a href="/pmc/articles/PMC5658948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28716227">Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Y,
|
||
Zhao D,
|
||
Yao S,
|
||
Wu S,
|
||
Hong D,
|
||
Wang Q,
|
||
Liu J,
|
||
Smeitink JAM,
|
||
Yuan Y,
|
||
Wang Z</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2017 Aug 15;379:137-143.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.jns.2017.05.056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28716227" target="_blank">28716227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15314133">Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van den Bergh PY,
|
||
Gérard JM,
|
||
Elosegi JA,
|
||
Manto MU,
|
||
Kubisch C,
|
||
Schoser BG</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2004 Sep;75(9):1349-51.
|
||
doi: 10.1136/jnnp.2003.028217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15314133" target="_blank">15314133</a><a href="/pmc/articles/PMC1739247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20myalgia%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32483371">The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noury JB,
|
||
Zagnoli F,
|
||
Petit F,
|
||
Le Maréchal C,
|
||
Marcorelles P,
|
||
Rannou F</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 Jun 1;10(1):8865.
|
||
doi: 10.1038/s41598-020-65797-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32483371" target="_blank">32483371</a><a href="/pmc/articles/PMC7264313" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32399949">Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seguí F,
|
||
Gonzalez-Quereda L,
|
||
Sanchez A,
|
||
Matas-García A,
|
||
Garrabou G,
|
||
Rodriguez MJ,
|
||
Gallano P,
|
||
Grau JM,
|
||
Milisenda JC</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2020 Oct;41(10):2967-2971.
|
||
Epub 2020 May 12
|
||
doi: 10.1007/s10072-020-04453-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32399949" target="_blank">32399949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28716227">Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Y,
|
||
Zhao D,
|
||
Yao S,
|
||
Wu S,
|
||
Hong D,
|
||
Wang Q,
|
||
Liu J,
|
||
Smeitink JAM,
|
||
Yuan Y,
|
||
Wang Z</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2017 Aug 15;379:137-143.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.jns.2017.05.056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28716227" target="_blank">28716227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23934075">Exercise-induced myalgia may limit the cardiovascular benefits of statins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opie LH</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Drugs Ther</span>
|
||
2013 Dec;27(6):569-72.
|
||
doi: 10.1007/s10557-013-6483-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23934075" target="_blank">23934075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15314133">Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van den Bergh PY,
|
||
Gérard JM,
|
||
Elosegi JA,
|
||
Manto MU,
|
||
Kubisch C,
|
||
Schoser BG</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2004 Sep;75(9):1349-51.
|
||
doi: 10.1136/jnnp.2003.028217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15314133" target="_blank">15314133</a><a href="/pmc/articles/PMC1739247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exercise-induced%20myalgia%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Exercise-induced%20myalgia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(exercise-induced%20myalgia)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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