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Scott Williams f361c7df98 Incremental update
2025-03-17 02:05:34 +00:00

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<meta name="keywords" content="C2265792, finding, hypertrophic muscles, increased skeletal muscle cells, muscle hypertrophy, muscular hypertrophy, organ or tissue function, skeletal muscle hypertrophy, 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="Abnormal increase in muscle size and mass not due to training." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=853739
ConceptID=C2265792
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Skeletal muscle hypertrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853739</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)&#10;Click for more information."><span class="highlight" style="background-color:">C2265792</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Organ or Tissue Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003712">HP:0003712</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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">Abnormal increase in muscle size and mass not due to training. [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">
<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>
<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=C2265792[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=853739">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&amp;from_uid=853739" ref="ncbi_uid=853739">V</a></span></span><span class="TLline">Skeletal muscle hypertrophy</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/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868171" ref="tree=MeSH" title="MedGen record for Abnormality of muscle size">Abnormality of muscle size</a></span><ul><li><span class="matched_ds">Skeletal muscle hypertrophy</span><ul><li><span class="TLline"><a href="/medgen/868297" ref="tree=MeSH" title="MedGen record for Facial muscle hypertrophy">Facial muscle hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/811969" ref="tree=MeSH" title="MedGen record for Generalized muscle hypertrophy">Generalized muscle hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/376851" ref="tree=MeSH" title="MedGen record for Muscle hypertrophy of the lower extremities">Muscle hypertrophy of the lower extremities</a></span><ul><li><span class="TLline"><a href="/medgen/335868" ref="tree=MeSH" title="MedGen record for Calf muscle hypertrophy">Calf muscle hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/339581" ref="tree=MeSH" title="MedGen record for Thigh hypertrophy">Thigh hypertrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868295" ref="tree=MeSH" title="MedGen record for Paraspinal muscle hypertrophy">Paraspinal muscle hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/868294" ref="tree=MeSH" title="MedGen record for Scapular muscle hypertrophy">Scapular muscle hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/898044" ref="tree=MeSH" title="MedGen record for Upper limb muscle hypertrophy">Upper limb muscle hypertrophy</a></span><ul><li><span class="TLline"><a href="/medgen/896797" ref="tree=MeSH" title="MedGen record for Distal upper limb muscle hypertrophy">Distal upper limb muscle hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/899966" ref="tree=MeSH" title="MedGen record for Proximal upper limb muscle hypertrophy">Proximal upper limb muscle hypertrophy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<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_113142"><div><strong>Paramyotonia congenita of Von Eulenburg</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113142</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)&#10;Click for more information.">C0221055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113142">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75562"><div><strong>Leri-Weill dyschondrosteosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75562</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)&#10;Click for more information.">C0265309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75562">Condition Record</a></div></div>
<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)&#10;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_167103"><div><strong>Myhre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167103</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)&#10;Click for more information.">C0796081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Myhre syndrome is a multisystem progressive connective tissue disorder that often results in significant complications. The highly distinctive (and often severe) findings of joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin usually occur spontaneously. Some proliferation such as abnormal scarring or adhesions may follow trauma, invasive medical procedures, or surgery. Effusions of the heart, airways, lungs, uterus, and peritoneum may occur and can progress to fibrosis. Most affected individuals have characteristic facial features (short palpebral fissures, deeply set eyes, maxillary underdevelopment, short philtrum, thin vermilion of the upper lip, narrow mouth, and prognathism) and developmental delay / cognitive disability, typically in the mild-to-moderate range. Neurobehavioral issues may include autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and/or anxiety. Although immunoglobulin (Ig) G and IgA deficiency are rare, affected individuals can experience recurrent infections (including otitis media, sinusitis, mastoiditis, or croup). Hearing loss can progress over time. Growth may be impaired in early life. Most adolescents develop obesity. Eye findings can include refractive errors, astigmatism, corectopia, and optic nerve anomalies. Gastrointestinal (GI) issues may include gastroesophageal reflux disease, constipation, and encopresis. Less commonly, stenosis of the GI tract, Hirschsprung disease, and/or metabolic dysfunction-associated liver disease may be observed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/167103">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)&#10;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).&#13; The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004).&#13; Genetic Heterogeneity of Familial Partial Lipodystrophy&#13; 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_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)&#10;Click for more information.">C1832560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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).&#13; Genetic Heterogeneity of Rippling Muscle Disease&#13; Another locus for RMD, designated RMD1 (600332), maps to chromosome 1q41.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/371357">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)&#10;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_318882"><div><strong>Satoyoshi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318882</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)&#10;Click for more information.">C1833454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families (Ehlayel and Lacassie, 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318882">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373284"><div><strong>Muscular dystrophy-dystroglycanopathy type B6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373284</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)&#10;Click for more information.">C1837229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).&#13; For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373284">Condition Record</a></div></div>
<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)&#10;Click for more information.">C1838254</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/324987">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335320"><div><strong>Uruguay Faciocardiomusculoskeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335320</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)&#10;Click for more information.">C1846010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335320">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_383853"><div><strong>Isolated hemihyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383853</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)&#10;Click for more information.">C1856184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (194070) (Shuman et al., 2006).&#13; Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (133900).&#13; Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383853">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355560"><div><strong>Torsion dystonia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355560</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)&#10;Click for more information.">C1865818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355560">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370585"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2M</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370585</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)&#10;Click for more information.">C1969040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370585">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395525"><div><strong>X-linked myopathy with postural muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395525</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)&#10;Click for more information.">C2678055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395525">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_412871"><div><strong>Congenital generalized lipodystrophy type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412871</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)&#10;Click for more information.">C2750069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/412871">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)&#10;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_418994"><div><strong>Myostatin-related muscle hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418994</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)&#10;Click for more information.">C2931112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/418994">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)&#10;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)&#10;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_461761"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461761</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)&#10;Click for more information.">C3150411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461761">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461766"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461766</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)&#10;Click for more information.">C3150416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with impaired intellectual development and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) (Godfrey et al., 2007).&#13; For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461766">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461767"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2O</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461767</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)&#10;Click for more information.">C3150417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).&#13; For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461767">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461768"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2N</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461768</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)&#10;Click for more information.">C3150418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal (Biancheri et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).&#13; For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461768">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934653"><div><strong>Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934653</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)&#10;Click for more information.">C4310686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The core features of short stature-micrognathia syndrome (SSMG) are intrauterine growth restriction (IUGR), postnatal short stature that is often rhizomelic, and micrognathia. Other common features include preterm birth, microcephaly, developmental delay, and genitourinary malformations in males. Transient liver dysfunction and glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, and cataracts have also been observed. Inter- and intrafamilial phenotypic severity varies greatly, from a relatively mild disorder to intrauterine death or stillbirth (Ritter et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934653">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1647990"><div><strong>Schwartz-Jampel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647990</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)&#10;Click for more information.">C4551479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1647990">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1645741"><div><strong>Autosomal dominant centronuclear myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645741</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)&#10;Click for more information.">C4551952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005).&#13; Genetic Heterogeneity of Centronuclear Myopathy&#13; Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415) on chromosome Xq28; CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q35; and CNM6 (617760), caused by mutation in the ZAK gene (609479) on chromosome 2q31.&#13; The mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see 159991.0001.&#13; Some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1645741">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1675945"><div><strong>PLIN1-related familial partial lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675945</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)&#10;Click for more information.">C5191005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1675945">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794212"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794212</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)&#10;Click for more information.">C5562002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-27 (LGMDR27) is characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. The age at onset is highly variable, from infancy to young adulthood. Patients with infantile onset may have a more severe disease course with rapid progression. Upper limb involvement and distal muscle weakness may also occur. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Less common features include impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows nonspecific dystrophic changes (Coppens et al., 2021).&#13; For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794212">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794278"><div><strong>Congenital disorder of glycosylation, type Iw, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794278</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)&#10;Click for more information.">C5562068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant congenital disorder of glycosylation type Iw (CDG1WAD) is characterized by variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features; about half of patients have impaired intellectual development. Additional features include increased muscle tone and muscle cramps (Wilson et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794278">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1845936"><div><strong>Lipodystrophy, familial partial, type 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845936</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)&#10;Click for more information.">C5882746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial partial lipodystrophy type 9 (FPLD9) is an autosomal recessive metabolic disorder characterized by the loss of adipose tissue resulting in a lean appearance with muscular hypertrophy, usually most apparent in the limbs and trunk. Some patients have more generalized lipoatrophy, whereas others have abnormal fat accumulation in the face and neck regions and show cushingoid or acromegalic facial features. The disorder is associated with insulin-resistant diabetes mellitus, dyslipidemia, low HDL, and hepatic steatosis. Symptom onset is usually in the first decade. Females tend to have hirsutism and polycystic ovary syndrome, whereas males have gynecomastia. Most patients also have neurologic involvement, including demyelinating polyneuropathy (in most) and delayed development with intellectual disability (in about half) (Schuermans et al., 2023).&#13; For a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1845936">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant centronuclear myopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2M</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461768" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2N</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2O</a></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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (31)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type Iw, autosomal dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412871" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 4</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_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_383853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated hemihyperplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leri-Weill dyschondrosteosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy, familial partial, type 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794212" 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 27</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy type B6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myhre syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myostatin-related muscle hypertrophy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paramyotonia congenita of Von Eulenburg</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PLIN1-related familial partial lipodystrophy</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_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_318882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Satoyoshi syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schwartz-Jampel syndrome type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uruguay Faciocardiomusculoskeletal syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked myopathy with postural muscle atrophy</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/23845739">β2-Adrenergic agonists and the treatment of skeletal muscle wasting disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Joassard OR,
Durieux AC,
Freyssenet DG</span><br />
<span class="medgenPMjournal">Int J Biochem Cell Biol</span>
2013 Oct;45(10):2309-21.
Epub 2013 Jul 8
doi: 10.1016/j.biocel.2013.06.025.
<span class="bold">PMID: </span><a href="/pubmed/23845739" target="_blank">23845739</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11038409">Angiotensin-converting enzyme genotype affects the response of human skeletal muscle to functional overload.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Folland J,
Leach B,
Little T,
Hawker K,
Myerson S,
Montgomery H,
Jones D</span><br />
<span class="medgenPMjournal">Exp Physiol</span>
2000 Sep;85(5):575-9.
<span class="bold">PMID: </span><a href="/pubmed/11038409" target="_blank">11038409</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22skeletal%20muscle%20hypertrophy%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 (2)</a></div></div>
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<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/36822394">Vegan and Omnivorous High Protein Diets Support Comparable Daily Myofibrillar Protein Synthesis Rates and Skeletal Muscle Hypertrophy in Young Adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Monteyne AJ,
Coelho MOC,
Murton AJ,
Abdelrahman DR,
Blackwell JR,
Koscien CP,
Knapp KM,
Fulford J,
Finnigan TJA,
Dirks ML,
Stephens FB,
Wall BT</span><br />
<span class="medgenPMjournal">J Nutr</span>
2023 Jun;153(6):1680-1695.
Epub 2023 Feb 22
doi: 10.1016/j.tjnut.2023.02.023.
<span class="bold">PMID: </span><a href="/pubmed/36822394" target="_blank">36822394</a><a href="/pmc/articles/PMC10308267" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36334240">Influence of Resistance Training Proximity-to-Failure on Skeletal Muscle Hypertrophy: A Systematic Review with Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Refalo MC,
Helms ER,
Trexler ET,
Hamilton DL,
Fyfe JJ</span><br />
<span class="medgenPMjournal">Sports Med</span>
2023 Mar;53(3):649-665.
Epub 2022 Nov 5
doi: 10.1007/s40279-022-01784-y.
<span class="bold">PMID: </span><a href="/pubmed/36334240" target="_blank">36334240</a><a href="/pmc/articles/PMC9935748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34260860">Rest-pause and drop-set training elicit similar strength and hypertrophy adaptations compared with traditional sets in resistance-trained males.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Enes A,
Alves RC,
Schoenfeld BJ,
Oneda G,
Perin SC,
Trindade TB,
Prestes J,
Souza-Junior TP</span><br />
<span class="medgenPMjournal">Appl Physiol Nutr Metab</span>
2021 Nov;46(11):1417-1424.
Epub 2021 Jul 14
doi: 10.1139/apnm-2021-0278.
<span class="bold">PMID: </span><a href="/pubmed/34260860" target="_blank">34260860</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32579911">Effects of plyometric vs. resistance training on skeletal muscle hypertrophy: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grgic J,
Schoenfeld BJ,
Mikulic P</span><br />
<span class="medgenPMjournal">J Sport Health Sci</span>
2021 Sep;10(5):530-536.
Epub 2020 Jun 21
doi: 10.1016/j.jshs.2020.06.010.
<span class="bold">PMID: </span><a href="/pubmed/32579911" target="_blank">32579911</a><a href="/pmc/articles/PMC8500805" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31301034">Comparing the Effectiveness of Blood Flow Restriction and Traditional Heavy Load Resistance Training in the Post-Surgery Rehabilitation of Anterior Cruciate Ligament Reconstruction Patients: A UK National Health Service Randomised Controlled Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes L,
Rosenblatt B,
Haddad F,
Gissane C,
McCarthy D,
Clarke T,
Ferris G,
Dawes J,
Paton B,
Patterson SD</span><br />
<span class="medgenPMjournal">Sports Med</span>
2019 Nov;49(11):1787-1805.
doi: 10.1007/s40279-019-01137-2.
<span class="bold">PMID: </span><a href="/pubmed/31301034" target="_blank">31301034</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skeletal%20muscle%20hypertrophy%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 (66)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39484808">Resistance training, skeletal muscle hypertrophy, and glucose homeostasis: how related are they? A Systematic review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paquin J,
Tremblay R,
Islam H,
Riesco E,
Marcotte-Chénard A,
Dionne IJ</span><br />
<span class="medgenPMjournal">Appl Physiol Nutr Metab</span>
2024 Dec 1;49(12):1622-1635.
Epub 2024 Aug 21
doi: 10.1139/apnm-2024-0128.
<span class="bold">PMID: </span><a href="/pubmed/39484808" target="_blank">39484808</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35264090">The Role of IL-6 Released During Exercise to Insulin Sensitivity and Muscle Hypertrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Melo Madureira ÁN,
de Oliveira JRS,
de Menezes Lima VL</span><br />
<span class="medgenPMjournal">Mini Rev Med Chem</span>
2022;22(18):2419-2428.
doi: 10.2174/1389557522666220309161245.
<span class="bold">PMID: </span><a href="/pubmed/35264090" target="_blank">35264090</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34614176">Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simha V,
Lanza IR,
Dasari S,
Klaus KA,
Le Brasseur N,
Vuckovic I,
Laurenti MC,
Cobelli C,
Port JD,
Nair KS</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2022 Jan 18;107(2):346-362.
doi: 10.1210/clinem/dgab725.
<span class="bold">PMID: </span><a href="/pubmed/34614176" target="_blank">34614176</a><a href="/pmc/articles/PMC8764358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30870215">Resistance Exercise-Induced Hypertrophy: A Potential Role for Rapamycin-Insensitive mTOR.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ogasawara R,
Jensen TE,
Goodman CA,
Hornberger TA</span><br />
<span class="medgenPMjournal">Exerc Sport Sci Rev</span>
2019 Jul;47(3):188-194.
doi: 10.1249/JES.0000000000000189.
<span class="bold">PMID: </span><a href="/pubmed/30870215" target="_blank">30870215</a><a href="/pmc/articles/PMC6659995" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25826432">Cytokine expression and secretion by skeletal muscle cells: regulatory mechanisms and exercise effects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peake JM,
Della Gatta P,
Suzuki K,
Nieman DC</span><br />
<span class="medgenPMjournal">Exerc Immunol Rev</span>
2015;21:8-25.
<span class="bold">PMID: </span><a href="/pubmed/25826432" target="_blank">25826432</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skeletal%20muscle%20hypertrophy%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 (14)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37432300">The Effects of Creatine Supplementation Combined with Resistance Training on Regional Measures of Muscle Hypertrophy: A Systematic Review with Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Burke R,
Piñero A,
Coleman M,
Mohan A,
Sapuppo M,
Augustin F,
Aragon AA,
Candow DG,
Forbes SC,
Swinton P,
Schoenfeld BJ</span><br />
<span class="medgenPMjournal">Nutrients</span>
2023 Apr 28;15(9)
doi: 10.3390/nu15092116.
<span class="bold">PMID: </span><a href="/pubmed/37432300" target="_blank">37432300</a><a href="/pmc/articles/PMC10180745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32646013">Protein Intake and Exercise-Induced Skeletal Muscle Hypertrophy: An Update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deldicque L</span><br />
<span class="medgenPMjournal">Nutrients</span>
2020 Jul 7;12(7)
doi: 10.3390/nu12072023.
<span class="bold">PMID: </span><a href="/pubmed/32646013" target="_blank">32646013</a><a href="/pmc/articles/PMC7400877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31301034">Comparing the Effectiveness of Blood Flow Restriction and Traditional Heavy Load Resistance Training in the Post-Surgery Rehabilitation of Anterior Cruciate Ligament Reconstruction Patients: A UK National Health Service Randomised Controlled Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes L,
Rosenblatt B,
Haddad F,
Gissane C,
McCarthy D,
Clarke T,
Ferris G,
Dawes J,
Paton B,
Patterson SD</span><br />
<span class="medgenPMjournal">Sports Med</span>
2019 Nov;49(11):1787-1805.
doi: 10.1007/s40279-019-01137-2.
<span class="bold">PMID: </span><a href="/pubmed/31301034" target="_blank">31301034</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30068354">ISSN exercise &amp; sports nutrition review update: research &amp; recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kerksick CM,
Wilborn CD,
Roberts MD,
Smith-Ryan A,
Kleiner SM,
Jäger R,
Collins R,
Cooke M,
Davis JN,
Galvan E,
Greenwood M,
Lowery LM,
Wildman R,
Antonio J,
Kreider RB</span><br />
<span class="medgenPMjournal">J Int Soc Sports Nutr</span>
2018 Aug 1;15(1):38.
doi: 10.1186/s12970-018-0242-y.
<span class="bold">PMID: </span><a href="/pubmed/30068354" target="_blank">30068354</a><a href="/pmc/articles/PMC6090881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29282529">The development of skeletal muscle hypertrophy through resistance training: the role of muscle damage and muscle protein synthesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Damas F,
Libardi CA,
Ugrinowitsch C</span><br />
<span class="medgenPMjournal">Eur J Appl Physiol</span>
2018 Mar;118(3):485-500.
Epub 2017 Dec 27
doi: 10.1007/s00421-017-3792-9.
<span class="bold">PMID: </span><a href="/pubmed/29282529" target="_blank">29282529</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skeletal%20muscle%20hypertrophy%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 (86)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39059994">Diagnostic and predictive abilities of myokines in patients with heart failure.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Berezin OO,
Berezina TA,
Hoppe UC,
Lichtenauer M,
Berezin AE</span><br />
<span class="medgenPMjournal">Adv Protein Chem Struct Biol</span>
2024;142:45-98.
Epub 2024 May 28
doi: 10.1016/bs.apcsb.2023.12.021.
<span class="bold">PMID: </span><a href="/pubmed/39059994" target="_blank">39059994</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38214457">Low baseline ribosome-related gene expression and resistance training-induced declines in ribosome-related gene expression are associated with skeletal muscle hypertrophy in young men and women.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brown A,
Parise G,
Thomas ACQ,
Ng SY,
McGlory C,
Phillips SM,
Kumbhare D,
Joanisse S</span><br />
<span class="medgenPMjournal">J Cell Physiol</span>
2024 Apr;239(4):e31182.
Epub 2024 Jan 12
doi: 10.1002/jcp.31182.
<span class="bold">PMID: </span><a href="/pubmed/38214457" target="_blank">38214457</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36206032">Association of lithocholic acid with skeletal muscle hypertrophy through TGR5-IGF-1 and skeletal muscle mass in cultured mouse myotubes, chronic liver disease rats and humans.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tamai Y,
Eguchi A,
Shigefuku R,
Kitamura H,
Tempaku M,
Sugimoto R,
Kobayashi Y,
Iwasa M,
Takei Y,
Nakagawa H</span><br />
<span class="medgenPMjournal">Elife</span>
2022 Oct 7;11
doi: 10.7554/eLife.80638.
<span class="bold">PMID: </span><a href="/pubmed/36206032" target="_blank">36206032</a><a href="/pmc/articles/PMC9545520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26289597">The metabolic and temporal basis of muscle hypertrophy in response to resistance exercise.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brook MS,
Wilkinson DJ,
Smith K,
Atherton PJ</span><br />
<span class="medgenPMjournal">Eur J Sport Sci</span>
2016 Sep;16(6):633-44.
Epub 2015 Aug 20
doi: 10.1080/17461391.2015.1073362.
<span class="bold">PMID: </span><a href="/pubmed/26289597" target="_blank">26289597</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20071991">Structural and functional changes of peripheral muscles in chronic obstructive pulmonary disease patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rabinovich RA,
Vilaró J</span><br />
<span class="medgenPMjournal">Curr Opin Pulm Med</span>
2010 Mar;16(2):123-33.
doi: 10.1097/MCP.0b013e328336438d.
<span class="bold">PMID: </span><a href="/pubmed/20071991" target="_blank">20071991</a><a href="/pmc/articles/PMC2920417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skeletal%20muscle%20hypertrophy%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34233179">Distribution of dietary protein intake in daily meals influences skeletal muscle hypertrophy via the muscle clock.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aoyama S,
Kim HK,
Hirooka R,
Tanaka M,
Shimoda T,
Chijiki H,
Kojima S,
Sasaki K,
Takahashi K,
Makino S,
Takizawa M,
Takahashi M,
Tahara Y,
Shimba S,
Shinohara K,
Shibata S</span><br />
<span class="medgenPMjournal">Cell Rep</span>
2021 Jul 6;36(1):109336.
doi: 10.1016/j.celrep.2021.109336.
<span class="bold">PMID: </span><a href="/pubmed/34233179" target="_blank">34233179</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32579911">Effects of plyometric vs. resistance training on skeletal muscle hypertrophy: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grgic J,
Schoenfeld BJ,
Mikulic P</span><br />
<span class="medgenPMjournal">J Sport Health Sci</span>
2021 Sep;10(5):530-536.
Epub 2020 Jun 21
doi: 10.1016/j.jshs.2020.06.010.
<span class="bold">PMID: </span><a href="/pubmed/32579911" target="_blank">32579911</a><a href="/pmc/articles/PMC8500805" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31301034">Comparing the Effectiveness of Blood Flow Restriction and Traditional Heavy Load Resistance Training in the Post-Surgery Rehabilitation of Anterior Cruciate Ligament Reconstruction Patients: A UK National Health Service Randomised Controlled Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes L,
Rosenblatt B,
Haddad F,
Gissane C,
McCarthy D,
Clarke T,
Ferris G,
Dawes J,
Paton B,
Patterson SD</span><br />
<span class="medgenPMjournal">Sports Med</span>
2019 Nov;49(11):1787-1805.
doi: 10.1007/s40279-019-01137-2.
<span class="bold">PMID: </span><a href="/pubmed/31301034" target="_blank">31301034</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29282529">The development of skeletal muscle hypertrophy through resistance training: the role of muscle damage and muscle protein synthesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Damas F,
Libardi CA,
Ugrinowitsch C</span><br />
<span class="medgenPMjournal">Eur J Appl Physiol</span>
2018 Mar;118(3):485-500.
Epub 2017 Dec 27
doi: 10.1007/s00421-017-3792-9.
<span class="bold">PMID: </span><a href="/pubmed/29282529" target="_blank">29282529</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27219125">Resistance training-induced changes in integrated myofibrillar protein synthesis are related to hypertrophy only after attenuation of muscle damage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Damas F,
Phillips SM,
Libardi CA,
Vechin FC,
Lixandrão ME,
Jannig PR,
Costa LA,
Bacurau AV,
Snijders T,
Parise G,
Tricoli V,
Roschel H,
Ugrinowitsch C</span><br />
<span class="medgenPMjournal">J Physiol</span>
2016 Sep 15;594(18):5209-22.
Epub 2016 Jul 9
doi: 10.1113/JP272472.
<span class="bold">PMID: </span><a href="/pubmed/27219125" target="_blank">27219125</a><a href="/pmc/articles/PMC5023708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skeletal%20muscle%20hypertrophy%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 (70)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/38742477">Skeletal muscle hypertrophy rewires glucose metabolism: An experimental investigation and systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baumert P,
Mäntyselkä S,
Schönfelder M,
Heiber M,
Jacobs MJ,
Swaminathan A,
Minderis P,
Dirmontas M,
Kleigrewe K,
Meng C,
Gigl M,
Ahmetov II,
Venckunas T,
Degens H,
Ratkevicius A,
Hulmi JJ,
Wackerhage H</span><br />
<span class="medgenPMjournal">J Cachexia Sarcopenia Muscle</span>
2024 Jun;15(3):989-1002.
Epub 2024 May 14
doi: 10.1002/jcsm.13468.
<span class="bold">PMID: </span><a href="/pubmed/38742477" target="_blank">38742477</a><a href="/pmc/articles/PMC11154753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37755666">The Effect of Hormonal Contraceptive Use on Skeletal Muscle Hypertrophy, Power and Strength Adaptations to Resistance Exercise Training: A Systematic Review and Multilevel Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nolan D,
McNulty KL,
Manninen M,
Egan B</span><br />
<span class="medgenPMjournal">Sports Med</span>
2024 Jan;54(1):105-125.
Epub 2023 Sep 27
doi: 10.1007/s40279-023-01911-3.
<span class="bold">PMID: </span><a href="/pubmed/37755666" target="_blank">37755666</a><a href="/pmc/articles/PMC10798924" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37432300">The Effects of Creatine Supplementation Combined with Resistance Training on Regional Measures of Muscle Hypertrophy: A Systematic Review with Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Burke R,
Piñero A,
Coleman M,
Mohan A,
Sapuppo M,
Augustin F,
Aragon AA,
Candow DG,
Forbes SC,
Swinton P,
Schoenfeld BJ</span><br />
<span class="medgenPMjournal">Nutrients</span>
2023 Apr 28;15(9)
doi: 10.3390/nu15092116.
<span class="bold">PMID: </span><a href="/pubmed/37432300" target="_blank">37432300</a><a href="/pmc/articles/PMC10180745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36334240">Influence of Resistance Training Proximity-to-Failure on Skeletal Muscle Hypertrophy: A Systematic Review with Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Refalo MC,
Helms ER,
Trexler ET,
Hamilton DL,
Fyfe JJ</span><br />
<span class="medgenPMjournal">Sports Med</span>
2023 Mar;53(3):649-665.
Epub 2022 Nov 5
doi: 10.1007/s40279-022-01784-y.
<span class="bold">PMID: </span><a href="/pubmed/36334240" target="_blank">36334240</a><a href="/pmc/articles/PMC9935748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31860546">Does Blood Flow Restriction Therapy in Patients Older Than Age 50 Result in Muscle Hypertrophy, Increased Strength, or Greater Physical Function? A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baker BS,
Stannard MS,
Duren DL,
Cook JL,
Stannard JP</span><br />
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
2020 Mar;478(3):593-606.
doi: 10.1097/CORR.0000000000001090.
<span class="bold">PMID: </span><a href="/pubmed/31860546" target="_blank">31860546</a><a href="/pmc/articles/PMC7145054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skeletal%20muscle%20hypertrophy%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_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>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2265792%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
<li><a href="/gtr/tests?term=C2265792%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2265792%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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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>
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Skeletal%20muscle%20hypertrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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