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<meta name="keywords" content="C1846678, decreased forced vital capacity, finding, reduced forced vital capacity, reduced fvc, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormal reduction in the amount of air a person can expel following maximal inspiration." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=337630
|
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ConceptID=C1846678
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Reduced forced vital capacity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337630</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.">C1846678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Decreased forced vital capacity</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:0032341">HP:0032341</a></td></tr>
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|
||
<div class="portlet_content ln">An abnormal reduction in the amount of air a person can expel following maximal inspiration. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Reduced forced vital capacity</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/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/635153" ref="tree=MeSH" title="MedGen record for Abnormality on pulmonary function testing">Abnormality on pulmonary function testing</a></span><ul><li><span class="matched_ds">Reduced forced vital capacity</span><ul><li><span class="TLline"><a href="/medgen/1685757" ref="tree=MeSH" title="MedGen record for Decreased post-bronchodilator forced vital capacity">Decreased post-bronchodilator forced vital capacity</a></span></li><li><span class="TLline"><a href="/medgen/1690458" ref="tree=MeSH" title="MedGen record for Decreased pre-bronchodilator forced vital capacity">Decreased pre-bronchodilator forced vital capacity</a></span></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>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_41393"><div><strong>Cystic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41393</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.">C0010674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41393">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_108177"><div><strong>Congenital myopathy with fiber type disproportion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108177</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.">C0546264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth.\n\nIndividuals with congenital fiber-type disproportion may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).\n\nThe severity of congenital fiber-type disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that becomes apparent in adulthood. Most often, the signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreased muscle tone (hypotonia) and muscle weakness. In most cases, muscle weakness does not worsen over time, and in some instances it may improve. Although motor skills such as standing and walking may be delayed, many affected children eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339580"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339580</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.">C1846672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). 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., 2006). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339580">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338098"><div><strong>Myosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338098</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.">C1850671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and a phenotype in between UCMD and Bethlem muscular dystrophy, referred to as intermediate COL6-RD. Bethlem muscular dystrophy is characterized by a combination of proximal muscle weakness and joint contractures. Hypotonia and delayed motor milestones occur in early childhood; mild hypotonia and weakness may be present congenitally. By adulthood, there is evidence of proximal weakness and contractures of the elbows, Achilles tendons, and long finger flexors. The progression of weakness is slow, and more than two thirds of affected individuals older than age 50 years remain independently ambulatory indoors, while relying on supportive means for mobility outdoors. Respiratory involvement is not a consistent feature. UCMD is characterized by congenital weakness, hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Decreased fetal movements are frequently reported. Some affected children acquire the ability to walk independently; however, progression of the disease results in a loss of ambulation by age ten to eleven years. Early and severe respiratory insufficiency occurs in all individuals, resulting in the need for nocturnal noninvasive ventilation (NIV) in the form of bilevel positive airway pressure (BiPAP) by age 11 years. Intermediate COL6-RD is characterized by independent ambulation past age 11 years and respiratory insufficiency that is later in onset than in UCMD and results in the need for NIV in the form of BiPAP by the late teens to early 20s. In contrast to individuals with Bethlem muscular dystrophy, those with intermediate COL6-RD typically do not achieve the ability to run, jump, or climb stairs without use of a railing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338098">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410078"><div><strong>Surfactant metabolism dysfunction, pulmonary, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410078</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.">C1970470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary surfactant metabolism dysfunction-2 (SMDP2) is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393858"><div><strong>Surfactant metabolism dysfunction, pulmonary, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393858</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.">C2677877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (138960) expression. Acquired PAP (610910), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (138960) (Martinez-Moczygemba et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393858">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414119"><div><strong>Myofibrillar myopathy 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414119</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.">C2751831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-6 (MFM6) is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Most patients also have a motor or sensorimotor axonal peripheral neuropathy. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, rimmed vacuoles, and filamentous inclusions, consistent with a myofibrillar myopathy. The disorder may cause severe disability by the second decade, leading to cardiac transplant, ventilation, and/or loss of ambulation (summary by Jaffer et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414119">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462292"><div><strong>Spondylocostal dysostosis 4, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462292</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.">C3150942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462292">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762102"><div><strong>Congenital myopathy 10b, mild variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762102</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.">C3541476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-10B (CMYO10B) is an autosomal recessive skeletal muscle disorder characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation. Other common features include facial and neck muscle weakness, feeding difficulties, contractures, scoliosis, high-arched palate, hyporeflexia, and difficulties walking. The disorder is slowly progressive and most patients follow a chronic course. Muscle biopsy shows variable findings, including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization (Boyden et al., 2012; Harris et al., 2018). Patients with missense mutations affecting conserved cysteine residues in the EGF-like domain show the mild variant phenotype (CMYO10B) with later onset of respiratory failure and minicores on muscle biopsy, whereas patients with more damaging mutations, including nonsense or frameshift null mutations, show the severe variant phenotype (CMYO10A) (Croci et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762102">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_901644"><div><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901644</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.">C4225346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901644">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903928"><div><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903928</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.">C4225347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903928">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934627"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2R1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934627</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.">C4310660</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-21 (LGMDR21) is characterized by progressive limb-girdle weakness with age of onset ranging from congenital to adult. Muscle imaging shows a specific and selective pattern of fatty muscle degeneration (summary by Servian-Morilla et al., 2020). For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934703"><div><strong>Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934703</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.">C4310736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare congenital muscular dystrophy characterised by neonatal hypotonia, life-threatening respiratory failure and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalised joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fibre size variability, rounded fibres with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibres and cap lesions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683417"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2U</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683417</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.">C5190987</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers'' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684682"><div><strong>Oculopharyngodistal myopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684682</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.">C5231388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by Ishiura et al., 2019). Genetic Heterogeneity of Oculopharyngodistal Myopathy See also OPDM2 (618940), caused by trinucleotide repeat expansion in the GIPC1 gene (605072) on chromosome 19p13; OPDM3 (619473), caused by trinucleotide repeat expansion in the NOTCH2NLC gene (618025) on chromosome 1q21; and OPDM4 (619790), caused by trinucleotide repeat expansion in the RILPL1 gene (614092) on chromosome 12q24. Oculopharyngeal muscular dystrophy (OPMD; 164300) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene (602279) (summary by Durmus et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684682">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684665"><div><strong>Ciliary dyskinesia, primary, 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684665</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.">C5231464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Boon et al., 2014). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1716408"><div><strong>Ciliary dyskinesia, primary, 44</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716408</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.">C5394063</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by Chivukula et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716408">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1713890"><div><strong>Mitochondrial DNA depletion syndrome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713890</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.">C5394140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-18 (MTDPS18) is an autosomal recessive neuromuscular disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, resulting in loss of ambulation as well as atrophy of the intrinsic hand muscles with clawed hands. Affected individuals may also develop scoliosis and have hypo- or hyperreflexia and decreased pulmonary vital capacity. Examination of skeletal muscle shows neurogenic atrophy and combined mitochondrial oxidative phosphorylation deficiency associated with mtDNA depletion. The clinical phenotype is reminiscent of spinal muscular atrophy (see SMA, 253300) and the metabolic profile is reminiscent of 2-aminoadipic 2-oxoadipic aciduria (AMOXAD; 204750), which is caused by mutation in the DHTKD1 gene (614984) (summary by Boczonadi et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1713890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782465"><div><strong>Myofibrillar myopathy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782465</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.">C5543038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-11 (MFM11) is an autosomal recessive skeletal muscle disorder characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. Some patients may present at birth with hypotonia and feeding difficulties, whereas others present later in mid-childhood. Although most patients show delayed walking at 2 to 3 years, all remain ambulatory into adulthood. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions (summary by Donkervoort et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782465">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780196"><div><strong>Ciliary dyskinesia, primary, 46</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780196</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.">C5543646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-46 (CILD46) is characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. No situs abnormalities have been observed (Edelbusch et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780196">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794157"><div><strong>Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794157</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.">C5561947</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive presynaptic congenital myasthenic syndrome-7B (CMS7B) is characterized by severe generalized muscle weakness apparent from birth; decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement. Electrophysiologic studies show decreased compound muscle action potentials (CMAPs) and a decremental response to repetitive nerve stimulation. Treatment with 3,4-diaminopyridine and pyridostigmine may result in clinical improvement (summary by Bauche et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794157">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794190"><div><strong>Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794190</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.">C5561980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency. Features of the disorder appear soon after birth, although endocrine anomalies are not noted until puberty. The severity of the phenotype is variable: some patients may lose ambulation and have significant respiratory insufficiency, whereas others retain the ability to walk (Foley et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794190">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) 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). 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_1824046"><div><strong>Congenital myopathy 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824046</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.">C5774273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-15 (CMYO15) is a skeletal muscle disorder characterized by symptom onset soon after birth. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. The disorder is unique in that there is gradual improvement of the severe muscle weakness with time, although forced vital capacity remains decreased. Additional features include facial weakness, scoliosis, joint contractures, and persistent ptosis or external ophthalmoplegia (van de Locht et al., 2021). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824046">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841181"><div><strong>Nemaline myopathy 5B, autosomal recessive, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841181</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.">C5830545</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive childhood-onset nemaline myopathy-5B (NEM5B) is a skeletal muscle disorder in which patients usually present with proximal muscle weakness of the lower and upper limbs in a limb-girdle distribution, resulting in gait abnormalities; however, most remain ambulatory even into late adulthood. Some affected individuals show delayed motor development. There is axial weakness and atrophy of the paraspinal muscles, along with kyphosis, scoliosis, and rigid spine, as well as variable limitations of the large joints. Most patients develop restrictive respiratory insufficiency with decreased forced vital capacity; some need noninvasive ventilation. Serum creatine kinase may be elevated. Muscle biopsy can show variable features, including nemaline rods, multiminicore lesions, endomysial fibrosis, and myofibrillar changes (Pellerin et al., 2020; Lee et al., 2022). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841181">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339580" 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 2I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934627" 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 2R1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683417" 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 2U</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 42</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1716408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 44</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (25)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 46</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 10b, mild variant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_108177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy with fiber type disproportion</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic fibrosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1713890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome</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_1794157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myosclerosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 5B, autosomal recessive, childhood-onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculopharyngodistal myopathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis 4, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Surfactant metabolism dysfunction, pulmonary, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Surfactant metabolism dysfunction, pulmonary, 4</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/36811157">A scoping review of lung function in children and adolescents living with HIV in the era of antiretroviral treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Maleche-Obimbo E,
|
||
Shanthikumar S,
|
||
Graham SM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 May;58(5):1344-1354.
|
||
Epub 2023 Mar 21
|
||
doi: 10.1002/ppul.26365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36811157" target="_blank">36811157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15692974">Rituximab in the treatment of dermatomyositis: an open-label pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levine TD</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheum</span>
|
||
2005 Feb;52(2):601-7.
|
||
doi: 10.1002/art.20849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15692974" target="_blank">15692974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6629833">The exclusion of restrictive lung disease by spirometric criteria in patients with a reduced forced vital capacity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichenhorn MS,
|
||
Popovich J Jr,
|
||
Beauchamp RK,
|
||
Armstrong J,
|
||
Ward JC</span><br />
|
||
<span class="medgenPMjournal">Henry Ford Hosp Med J</span>
|
||
1983;31(2):101-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6629833" target="_blank">6629833</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22reduced%20forced%20vital%20capacity%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 (4)</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/37973176">Mortality surrogates in combined pulmonary fibrosis and emphysema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao A,
|
||
Gudmundsson E,
|
||
Mogulkoc N,
|
||
van Moorsel C,
|
||
Corte TJ,
|
||
Vasudev P,
|
||
Romei C,
|
||
Chapman R,
|
||
Wallis TJM,
|
||
Denneny E,
|
||
Goos T,
|
||
Savas R,
|
||
Ahmed A,
|
||
Brereton CJ,
|
||
van Es HW,
|
||
Jo H,
|
||
De Liperi A,
|
||
Duncan M,
|
||
Pontoppidan K,
|
||
De Sadeleer LJ,
|
||
van Beek F,
|
||
Barnett J,
|
||
Cross G,
|
||
Procter A,
|
||
Veltkamp M,
|
||
Hopkins P,
|
||
Moodley Y,
|
||
Taliani A,
|
||
Taylor M,
|
||
Verleden S,
|
||
Tavanti L,
|
||
Vermant M,
|
||
Nair A,
|
||
Stewart I,
|
||
Janes SM,
|
||
Young AL,
|
||
Barber D,
|
||
Alexander DC,
|
||
Porter JC,
|
||
Wells AU,
|
||
Jones MG,
|
||
Wuyts WA,
|
||
Jacob J</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2024 Apr;63(4)
|
||
Epub 2024 Apr 4
|
||
doi: 10.1183/13993003.00127-2023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37973176" target="_blank">37973176</a><a href="/pmc/articles/PMC7616106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33574079">Lung function and cardiovascular disease: a two-sample Mendelian randomisation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higbee DH,
|
||
Granell R,
|
||
Sanderson E,
|
||
Davey Smith G,
|
||
Dodd JW</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2021 Sep;58(3)
|
||
Epub 2021 Sep 9
|
||
doi: 10.1183/13993003.03196-2020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33574079" target="_blank">33574079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28244800">Reduced Forced Vital Capacity in an African Population. Prevalence and Risk Factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obaseki DO,
|
||
Erhabor GE,
|
||
Awopeju OF,
|
||
Adewole OO,
|
||
Adeniyi BO,
|
||
Buist EAS,
|
||
Burney PG</span><br />
|
||
<span class="medgenPMjournal">Ann Am Thorac Soc</span>
|
||
2017 May;14(5):714-721.
|
||
doi: 10.1513/AnnalsATS.201608-598OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28244800" target="_blank">28244800</a><a href="/pmc/articles/PMC5427737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27711222">Association between Traffic Air Pollution and Reduced Forced Vital Capacity: A Study Using Personal Monitors for Outdoor Workers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos UP,
|
||
Garcia ML,
|
||
Braga AL,
|
||
Pereira LA,
|
||
Lin CA,
|
||
de André PA,
|
||
de André CD,
|
||
Singer JD,
|
||
Saldiva PH</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(10):e0163225.
|
||
Epub 2016 Oct 6
|
||
doi: 10.1371/journal.pone.0163225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27711222" target="_blank">27711222</a><a href="/pmc/articles/PMC5053536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15692974">Rituximab in the treatment of dermatomyositis: an open-label pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levine TD</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheum</span>
|
||
2005 Feb;52(2):601-7.
|
||
doi: 10.1002/art.20849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15692974" target="_blank">15692974</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20forced%20vital%20capacity%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 (74)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37813137">Associations between mitochondrial biomarkers, urban residential exposures and childhood asthma outcomes over 6 months.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller RL,
|
||
Rivera J,
|
||
Lichtiger L,
|
||
Govindarajulu US,
|
||
Jung KH,
|
||
Lovinsky-Desir S,
|
||
Perera F,
|
||
Balcer Whaley S,
|
||
Newman M,
|
||
Grant TL,
|
||
McCormack M,
|
||
Perzanowski M,
|
||
Matsui EC</span><br />
|
||
<span class="medgenPMjournal">Environ Res</span>
|
||
2023 Dec 15;239(Pt 1):117342.
|
||
Epub 2023 Oct 9
|
||
doi: 10.1016/j.envres.2023.117342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37813137" target="_blank">37813137</a><a href="/pmc/articles/PMC10843300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37667228">Association of spirometric restriction with mortality in the silicotics: a cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang S,
|
||
Chan CK,
|
||
Wang MH,
|
||
Leung CC,
|
||
Tai LB,
|
||
Tse LA</span><br />
|
||
<span class="medgenPMjournal">BMC Pulm Med</span>
|
||
2023 Sep 4;23(1):327.
|
||
doi: 10.1186/s12890-023-02622-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37667228" target="_blank">37667228</a><a href="/pmc/articles/PMC10478203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35020192">Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelly CR,
|
||
Saw JL,
|
||
Thapa P,
|
||
Mandrekar J,
|
||
Naddaf E</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2022 Apr;65(4):415-421.
|
||
Epub 2022 Jan 25
|
||
doi: 10.1002/mus.27493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35020192" target="_blank">35020192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28244800">Reduced Forced Vital Capacity in an African Population. Prevalence and Risk Factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obaseki DO,
|
||
Erhabor GE,
|
||
Awopeju OF,
|
||
Adewole OO,
|
||
Adeniyi BO,
|
||
Buist EAS,
|
||
Burney PG</span><br />
|
||
<span class="medgenPMjournal">Ann Am Thorac Soc</span>
|
||
2017 May;14(5):714-721.
|
||
doi: 10.1513/AnnalsATS.201608-598OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28244800" target="_blank">28244800</a><a href="/pmc/articles/PMC5427737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6629833">The exclusion of restrictive lung disease by spirometric criteria in patients with a reduced forced vital capacity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichenhorn MS,
|
||
Popovich J Jr,
|
||
Beauchamp RK,
|
||
Armstrong J,
|
||
Ward JC</span><br />
|
||
<span class="medgenPMjournal">Henry Ford Hosp Med J</span>
|
||
1983;31(2):101-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6629833" target="_blank">6629833</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20forced%20vital%20capacity%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 (38)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35700157">Edaravone efficacy in amyotrophic lateral sclerosis with reduced forced vital capacity: Post-hoc analysis of Study 19 (MCI186-19) [clinical trial NCT01492686].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brooks BR,
|
||
Heiman-Patterson T,
|
||
Wiedau-Pazos M,
|
||
Liu S,
|
||
Zhang J,
|
||
Apple S</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(6):e0258614.
|
||
Epub 2022 Jun 14
|
||
doi: 10.1371/journal.pone.0258614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35700157" target="_blank">35700157</a><a href="/pmc/articles/PMC9197041" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33574079">Lung function and cardiovascular disease: a two-sample Mendelian randomisation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higbee DH,
|
||
Granell R,
|
||
Sanderson E,
|
||
Davey Smith G,
|
||
Dodd JW</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2021 Sep;58(3)
|
||
Epub 2021 Sep 9
|
||
doi: 10.1183/13993003.03196-2020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33574079" target="_blank">33574079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30418599">Reduced Forced Vital Capacity Among Human Immunodeficiency Virus-Infected Middle-Aged Individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verboeket SO,
|
||
Wit FW,
|
||
Kirk GD,
|
||
Drummond MB,
|
||
van Steenwijk RP,
|
||
van Zoest RA,
|
||
Nellen JF,
|
||
Schim van der Loeff MF,
|
||
Reiss P;
|
||
AGEhIV Study Group</span><br />
|
||
<span class="medgenPMjournal">J Infect Dis</span>
|
||
2019 Apr 8;219(8):1274-1284.
|
||
doi: 10.1093/infdis/jiy653.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30418599" target="_blank">30418599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27711222">Association between Traffic Air Pollution and Reduced Forced Vital Capacity: A Study Using Personal Monitors for Outdoor Workers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos UP,
|
||
Garcia ML,
|
||
Braga AL,
|
||
Pereira LA,
|
||
Lin CA,
|
||
de André PA,
|
||
de André CD,
|
||
Singer JD,
|
||
Saldiva PH</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(10):e0163225.
|
||
Epub 2016 Oct 6
|
||
doi: 10.1371/journal.pone.0163225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27711222" target="_blank">27711222</a><a href="/pmc/articles/PMC5053536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23965204">Repeated spinal anesthesia in a tetraparetic patient with Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wipfli M,
|
||
Arnold M,
|
||
Luginbühl M</span><br />
|
||
<span class="medgenPMjournal">J Clin Anesth</span>
|
||
2013 Aug;25(5):409-412.
|
||
Epub 2013 Aug 17
|
||
doi: 10.1016/j.jclinane.2013.01.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23965204" target="_blank">23965204</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20forced%20vital%20capacity%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 (40)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35700157">Edaravone efficacy in amyotrophic lateral sclerosis with reduced forced vital capacity: Post-hoc analysis of Study 19 (MCI186-19) [clinical trial NCT01492686].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brooks BR,
|
||
Heiman-Patterson T,
|
||
Wiedau-Pazos M,
|
||
Liu S,
|
||
Zhang J,
|
||
Apple S</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(6):e0258614.
|
||
Epub 2022 Jun 14
|
||
doi: 10.1371/journal.pone.0258614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35700157" target="_blank">35700157</a><a href="/pmc/articles/PMC9197041" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34365518">Reduced Forced Vital Capacity and the Number of Chest Wall Surgeries are Associated with Decreased Exercise Capacity in Children with Congenital Heart Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masood IR,
|
||
Detterich J,
|
||
Cerrone D,
|
||
Lewinter K,
|
||
Shah P,
|
||
Kato R,
|
||
Sabati A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2022 Jan;43(1):54-61.
|
||
Epub 2021 Aug 7
|
||
doi: 10.1007/s00246-021-02692-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34365518" target="_blank">34365518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28464509">Forced vital capacity predicts morbidity and mortality in adults with repaired tetralogy of Fallot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen KE,
|
||
Buelow MW,
|
||
Dixon J,
|
||
Brazauskas R,
|
||
Cohen SB,
|
||
Earing MG,
|
||
Ginde S</span><br />
|
||
<span class="medgenPMjournal">Congenit Heart Dis</span>
|
||
2017 Jul;12(4):435-440.
|
||
Epub 2017 May 2
|
||
doi: 10.1111/chd.12470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28464509" target="_blank">28464509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27711222">Association between Traffic Air Pollution and Reduced Forced Vital Capacity: A Study Using Personal Monitors for Outdoor Workers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos UP,
|
||
Garcia ML,
|
||
Braga AL,
|
||
Pereira LA,
|
||
Lin CA,
|
||
de André PA,
|
||
de André CD,
|
||
Singer JD,
|
||
Saldiva PH</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(10):e0163225.
|
||
Epub 2016 Oct 6
|
||
doi: 10.1371/journal.pone.0163225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27711222" target="_blank">27711222</a><a href="/pmc/articles/PMC5053536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15692974">Rituximab in the treatment of dermatomyositis: an open-label pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levine TD</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheum</span>
|
||
2005 Feb;52(2):601-7.
|
||
doi: 10.1002/art.20849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15692974" target="_blank">15692974</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20forced%20vital%20capacity%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 (53)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35700157">Edaravone efficacy in amyotrophic lateral sclerosis with reduced forced vital capacity: Post-hoc analysis of Study 19 (MCI186-19) [clinical trial NCT01492686].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brooks BR,
|
||
Heiman-Patterson T,
|
||
Wiedau-Pazos M,
|
||
Liu S,
|
||
Zhang J,
|
||
Apple S</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(6):e0258614.
|
||
Epub 2022 Jun 14
|
||
doi: 10.1371/journal.pone.0258614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35700157" target="_blank">35700157</a><a href="/pmc/articles/PMC9197041" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34365518">Reduced Forced Vital Capacity and the Number of Chest Wall Surgeries are Associated with Decreased Exercise Capacity in Children with Congenital Heart Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masood IR,
|
||
Detterich J,
|
||
Cerrone D,
|
||
Lewinter K,
|
||
Shah P,
|
||
Kato R,
|
||
Sabati A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2022 Jan;43(1):54-61.
|
||
Epub 2021 Aug 7
|
||
doi: 10.1007/s00246-021-02692-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34365518" target="_blank">34365518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33574079">Lung function and cardiovascular disease: a two-sample Mendelian randomisation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higbee DH,
|
||
Granell R,
|
||
Sanderson E,
|
||
Davey Smith G,
|
||
Dodd JW</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2021 Sep;58(3)
|
||
Epub 2021 Sep 9
|
||
doi: 10.1183/13993003.03196-2020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33574079" target="_blank">33574079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28464509">Forced vital capacity predicts morbidity and mortality in adults with repaired tetralogy of Fallot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen KE,
|
||
Buelow MW,
|
||
Dixon J,
|
||
Brazauskas R,
|
||
Cohen SB,
|
||
Earing MG,
|
||
Ginde S</span><br />
|
||
<span class="medgenPMjournal">Congenit Heart Dis</span>
|
||
2017 Jul;12(4):435-440.
|
||
Epub 2017 May 2
|
||
doi: 10.1111/chd.12470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28464509" target="_blank">28464509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27711222">Association between Traffic Air Pollution and Reduced Forced Vital Capacity: A Study Using Personal Monitors for Outdoor Workers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos UP,
|
||
Garcia ML,
|
||
Braga AL,
|
||
Pereira LA,
|
||
Lin CA,
|
||
de André PA,
|
||
de André CD,
|
||
Singer JD,
|
||
Saldiva PH</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(10):e0163225.
|
||
Epub 2016 Oct 6
|
||
doi: 10.1371/journal.pone.0163225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27711222" target="_blank">27711222</a><a href="/pmc/articles/PMC5053536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20forced%20vital%20capacity%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 (58)</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/39432139">Meta-analysis of mortality-associated factors in primary Sjögren's syndrome patients with interstitial lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pang R,
|
||
Ma X,
|
||
Guo H,
|
||
Qi X</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
2025 Jan;44(1):23-31.
|
||
Epub 2024 Oct 21
|
||
doi: 10.1007/s10067-024-07191-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39432139" target="_blank">39432139</a><a href="/pmc/articles/PMC11729075" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36601957">Abnormalities in pulmonary function and volumes in patients with CHD: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hock J,
|
||
Willinger L,
|
||
Pozza RD,
|
||
Ewert P,
|
||
Hager A</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2023 Feb;33(2):169-181.
|
||
Epub 2023 Jan 5
|
||
doi: 10.1017/S1047951122004103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36601957" target="_blank">36601957</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36068582">Pulmonary function and chest computed tomography abnormalities 6-12 months after recovery from COVID-19: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JH,
|
||
Yim JJ,
|
||
Park J</span><br />
|
||
<span class="medgenPMjournal">Respir Res</span>
|
||
2022 Sep 6;23(1):233.
|
||
doi: 10.1186/s12931-022-02163-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36068582" target="_blank">36068582</a><a href="/pmc/articles/PMC9446643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20forced%20vital%20capacity%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
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|
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<div class="portlet mgSection" id="ID_113">
|
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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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