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<!--
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UID=43218
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ConceptID=C0085623
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Akinesia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43218</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.">C0085623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td><span class="bold">SNOMED CT: </span></td>
|
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<td>Akinesia (33994004)</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:0002304">HP:0002304</a></td></tr>
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<div class="portlet_content ln">Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. [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="TLline">Akinesia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/10113" ref="tree=MeSH" title="MedGen record for Movement disorder">Movement disorder</a></span><ul><li><span class="TLline"><a href="/medgen/871229" ref="tree=MeSH" title="MedGen record for Diminished movement">Diminished movement</a></span><ul><li><span class="matched_ds">Akinesia</span><ul><li><span class="TLline"><a href="/medgen/1788495" ref="tree=MeSH" title="MedGen record for Lower extremity akinesia">Lower extremity akinesia</a></span></li><li><span class="TLline"><a href="/medgen/1778147" ref="tree=MeSH" title="MedGen record for Upper extremity akinesia">Upper extremity akinesia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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_6708"><div><strong>Pigmentary pallidal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6708</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.">C0018523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6708">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324446"><div><strong>Supranuclear palsy, progressive, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324446</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.">C1836148</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/324446">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374996"><div><strong>Gaucher disease perinatal lethal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374996</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.">C1842704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374996">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334413"><div><strong>Lethal congenital contracture syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334413</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.">C1843478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lethal congenital contracture syndrome-2 (LCCS2) is an autosomal recessive disorder characterized by severe multiple congenital contractures with muscle wasting and atrophy. Micrognathia and other craniofacial anomalies, including cleft palate, as well as cardiac defects and enlarged urinary bladder at birth have also been reported. Hydrops fetalis and multiple pterygia are absent. Most patients have died in the neonatal period, although 2 survived to early adolescence (Landau et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of LCCS, see LCCS1 (253310).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334413">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375311"><div><strong>Spinocerebellar ataxia type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375311</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.">C1843891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338281"><div><strong>Kufor-Rakeb syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338281</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.">C1847640</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338281">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381473"><div><strong>Lethal multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381473</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.">C1854678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.\n\nThe two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.\n\nLethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.\n\nMultiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/381473">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_384026"><div><strong>Fowler syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384026</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.">C1856972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/384026">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_357007"><div><strong>Perry syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357007</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1868594</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/357007">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_393406"><div><strong>Compton-North congenital myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393406</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.">C2675527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital myopathy-12 (CMYO12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/393406">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481763"><div><strong>Parkinson disease 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481763</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.">C3280133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">VPS35-related Parkinson disease (PARK-VPS35) is indistinguishable from Parkinson disease of unknown cause representing a simplex case (also referred to as "sporadic" Parkinson disease). PARK-VPS35 is characterized by typical parkinsonism (resting tremor, bradykinesia, rigidity, disturbance of postural reflexes) presenting on average a decade earlier than in individuals with simplex Parkinson disease of unknown cause. Median age of onset is approximately 50 years, with a range of onset spanning the third to eighth decade of life. PARK-VPS35 subtypes can include tremor dominant, akinetic rigid, gait difficulty, or mixed. Asymmetric presentation is typical. The disease course is usually milder than that of simplex Parkinson disease of unknown cause, with a decreased incidence of atypical signs. Dyskinesia and motor fluctuations may occur. Neuropsychiatric manifestations (depression and schizophrenia), learning difficulties, mild cognitive impairment, and dementia have been reported, albeit with lower occurrence than in simplex Parkinson disease of unknown cause. Additional findings include impaired sense of smell and autonomic manifestations including orthostasis and constipation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/481763">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_763887"><div><strong>Neurodegeneration with brain iron accumulation 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763887</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.">C3550973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent-to-limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763887">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896607"><div><strong>Autosomal recessive early-onset Parkinson disease 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896607</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.">C4225186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Parkinson disease-23 (PARK23) is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/896607">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1640811"><div><strong>Supranuclear palsy, progressive, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640811</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.">C4551863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648493"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648493</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.">C4748827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Mitochondrial complex I deficiency nuclear type 28 (MC1DN28) is an autosomal recessive disorder characterized by hypotonia, nystagmus, bilateral lesions in the basal ganglia, and lactic acidosis (summary by Gonzalez-Quintana et al., 2020).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648493">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718097"><div><strong>Myopathy, congenital, with respiratory insufficiency and bone fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718097</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.">C5394189</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-9A (CMYO9A) is an autosomal recessive early-onset severe muscular disorder resulting in early death. Affected individuals present at birth with neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency. Laboratory investigations are consistent with a defect in early muscle development (summary by Estan et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718097">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1731112"><div><strong>Arthrogryposis multiplex congenita 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1731112</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.">C5436453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1731112">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1779519"><div><strong>Leukoencephalopathy, progressive, infantile-onset, with or without deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779519</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.">C5542996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most patients present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. The brain and spinal cord are usually both involved; calcifications of these regions are often observed. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction. Early death often occurs (summary by Itoh et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1779519">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1786758"><div><strong>Arthrogryposis multiplex congenita 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786758</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.">C5543431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Arthrogryposis multiplex congenita-6 (AMC6) is a severe autosomal recessive disorder of skeletal muscle with onset of symptoms in utero. The pregnancies are usually complicated by polyhydramnios and reduced fetal movements. Affected individuals have congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops. Fetal demise or termination of pregnancy often occurs after ultrasound detection of abnormalities. Those that survive to birth have significant hypotonia with absent spontaneous movements, respiratory insufficiency, arthrogryposis, and multiple pterygia. Skeletal muscle is hypoplastic, immature, and underdeveloped, with nemaline rods, poorly developed sarcomeres, and poor cross-striation. Death in infancy usually occurs (summary by Ahmed et al., 2018, Rocha et al., 2021). For a discussion of genetic heterogeneity of AMC, see AMC1 (617468).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1786758">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1805453"><div><strong>Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1805453</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.">C5677001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP) is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Some patients may have normal early development in infancy before symptom onset. There is phenotypic heterogeneity and the severity is highly variable; less severely affected individuals have only mild deficits and are able to attend special schools. About half of patients develop various types of seizures that may be refractory or responsive to treatment. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism (Ramos et al., 2019, Wirth et al., 2020; Singh et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1805453">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1731112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive early-onset Parkinson disease 23</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Compton-North congenital myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fowler syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (20)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease perinatal lethal</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1805453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kufor-Rakeb syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital contracture syndrome 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal multiple pterygium syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1779519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy, progressive, infantile-onset, with or without deafness</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648493" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 28</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, congenital, with respiratory insufficiency and bone fractures</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481763" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinson disease 17</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perry syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary pallidal degeneration</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 21</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear palsy, progressive, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear palsy, progressive, 2</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/33060286">Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ravenscroft G,
|
||
Clayton JS,
|
||
Faiz F,
|
||
Sivadorai P,
|
||
Milnes D,
|
||
Cincotta R,
|
||
Moon P,
|
||
Kamien B,
|
||
Edwards M,
|
||
Delatycki M,
|
||
Lamont PJ,
|
||
Chan SH,
|
||
Colley A,
|
||
Ma A,
|
||
Collins F,
|
||
Hennington L,
|
||
Zhao T,
|
||
McGillivray G,
|
||
Ghedia S,
|
||
Chao K,
|
||
O'Donnell-Luria A,
|
||
Laing NG,
|
||
Davis MR</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2021 Sep;58(9):609-618.
|
||
Epub 2020 Oct 15
|
||
doi: 10.1136/jmedgenet-2020-106901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33060286" target="_blank">33060286</a><a href="/pmc/articles/PMC8328565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32568113">Management of Pain in Parkinson's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buhmann C,
|
||
Kassubek J,
|
||
Jost WH</span><br />
|
||
<span class="medgenPMjournal">J Parkinsons Dis</span>
|
||
2020;10(s1):S37-S48.
|
||
doi: 10.3233/JPD-202069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32568113" target="_blank">32568113</a><a href="/pmc/articles/PMC7592654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28467028">Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Höglinger GU,
|
||
Respondek G,
|
||
Stamelou M,
|
||
Kurz C,
|
||
Josephs KA,
|
||
Lang AE,
|
||
Mollenhauer B,
|
||
Müller U,
|
||
Nilsson C,
|
||
Whitwell JL,
|
||
Arzberger T,
|
||
Englund E,
|
||
Gelpi E,
|
||
Giese A,
|
||
Irwin DJ,
|
||
Meissner WG,
|
||
Pantelyat A,
|
||
Rajput A,
|
||
van Swieten JC,
|
||
Troakes C,
|
||
Antonini A,
|
||
Bhatia KP,
|
||
Bordelon Y,
|
||
Compta Y,
|
||
Corvol JC,
|
||
Colosimo C,
|
||
Dickson DW,
|
||
Dodel R,
|
||
Ferguson L,
|
||
Grossman M,
|
||
Kassubek J,
|
||
Krismer F,
|
||
Levin J,
|
||
Lorenzl S,
|
||
Morris HR,
|
||
Nestor P,
|
||
Oertel WH,
|
||
Poewe W,
|
||
Rabinovici G,
|
||
Rowe JB,
|
||
Schellenberg GD,
|
||
Seppi K,
|
||
van Eimeren T,
|
||
Wenning GK,
|
||
Boxer AL,
|
||
Golbe LI,
|
||
Litvan I;
|
||
Movement Disorder Society-endorsed PSP Study Group</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2017 Jun;32(6):853-864.
|
||
Epub 2017 May 3
|
||
doi: 10.1002/mds.26987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28467028" target="_blank">28467028</a><a href="/pmc/articles/PMC5516529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22akinesia%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 (84)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174243">Pediatric neuromuscular channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Munot P,
|
||
Jayaseelan DL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:111-122.
|
||
doi: 10.1016/B978-0-323-90820-7.00011-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174243" target="_blank">39174243</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36588183">Fetal arthrogryposis-what do we tell the prospective parents?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filges I,
|
||
Jünemann S,
|
||
Viehweger E,
|
||
Tercanli S</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2023 Jun;43(6):798-805.
|
||
Epub 2023 Jan 12
|
||
doi: 10.1002/pd.6299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36588183" target="_blank">36588183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31631455">Parkinson disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrino R,
|
||
Schapira AHV</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2020 Jan;27(1):27-42.
|
||
Epub 2019 Nov 27
|
||
doi: 10.1111/ene.14108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31631455" target="_blank">31631455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7739837">Fetal akinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammond E,
|
||
Donnenfeld AE</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Surv</span>
|
||
1995 Mar;50(3):240-9.
|
||
doi: 10.1097/00006254-199503000-00028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7739837" target="_blank">7739837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2209907">Peribulbar versus retrobulbar anaesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murdoch IE</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
1990;4 ( Pt 3):445-9.
|
||
doi: 10.1038/eye.1990.56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2209907" target="_blank">2209907</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Akinesia%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 (776)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32568113">Management of Pain in Parkinson's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buhmann C,
|
||
Kassubek J,
|
||
Jost WH</span><br />
|
||
<span class="medgenPMjournal">J Parkinsons Dis</span>
|
||
2020;10(s1):S37-S48.
|
||
doi: 10.3233/JPD-202069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32568113" target="_blank">32568113</a><a href="/pmc/articles/PMC7592654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31631455">Parkinson disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrino R,
|
||
Schapira AHV</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2020 Jan;27(1):27-42.
|
||
Epub 2019 Nov 27
|
||
doi: 10.1111/ene.14108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31631455" target="_blank">31631455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31779824">Progressive supranuclear palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giagkou N,
|
||
Höglinger GU,
|
||
Stamelou M</span><br />
|
||
<span class="medgenPMjournal">Int Rev Neurobiol</span>
|
||
2019;149:49-86.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1016/bs.irn.2019.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31779824" target="_blank">31779824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29455773">Takotsubo syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta S,
|
||
Gupta MM</span><br />
|
||
<span class="medgenPMjournal">Indian Heart J</span>
|
||
2018 Jan-Feb;70(1):165-174.
|
||
Epub 2017 Sep 13
|
||
doi: 10.1016/j.ihj.2017.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29455773" target="_blank">29455773</a><a href="/pmc/articles/PMC5902911" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28691412">Rehabilitation in multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kubsik-Gidlewska AM,
|
||
Klimkiewicz P,
|
||
Klimkiewicz R,
|
||
Janczewska K,
|
||
Woldańska-Okońska M</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2017 Jul;26(4):709-715.
|
||
doi: 10.17219/acem/62329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28691412" target="_blank">28691412</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Akinesia%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 (737)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28153525">The terminology of akinesia, bradykinesia and hypokinesia: Past, present and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schilder JC,
|
||
Overmars SS,
|
||
Marinus J,
|
||
van Hilten JJ,
|
||
Koehler PJ</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2017 Apr;37:27-35.
|
||
Epub 2017 Jan 22
|
||
doi: 10.1016/j.parkreldis.2017.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28153525" target="_blank">28153525</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26977635">Motor cortex stimulation for movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cioni B,
|
||
Tufo T,
|
||
Bentivoglio A,
|
||
Trevisi G,
|
||
Piano C</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Sci</span>
|
||
2016 Jun;60(2):230-41.
|
||
Epub 2016 Mar 15
|
||
<span class="bold">PMID: </span><a href="/pubmed/26977635" target="_blank">26977635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2209907">Peribulbar versus retrobulbar anaesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murdoch IE</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
1990;4 ( Pt 3):445-9.
|
||
doi: 10.1038/eye.1990.56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2209907" target="_blank">2209907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2871010">Low-dose treatment strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Putten T,
|
||
Marder SR</span><br />
|
||
<span class="medgenPMjournal">J Clin Psychiatry</span>
|
||
1986 May;47 Suppl:12-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2871010" target="_blank">2871010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7194429">Lisuride in parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gopinathan G,
|
||
Teräväinen H,
|
||
Dambrosia JM,
|
||
Ward CD,
|
||
Sanes JN,
|
||
Stuart WK,
|
||
Evarts EV,
|
||
Calne DB</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1981 Apr;31(4):371-6.
|
||
doi: 10.1212/wnl.31.4.371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7194429" target="_blank">7194429</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Akinesia%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 (799)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31631455">Parkinson disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrino R,
|
||
Schapira AHV</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2020 Jan;27(1):27-42.
|
||
Epub 2019 Nov 27
|
||
doi: 10.1111/ene.14108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31631455" target="_blank">31631455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29455773">Takotsubo syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta S,
|
||
Gupta MM</span><br />
|
||
<span class="medgenPMjournal">Indian Heart J</span>
|
||
2018 Jan-Feb;70(1):165-174.
|
||
Epub 2017 Sep 13
|
||
doi: 10.1016/j.ihj.2017.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29455773" target="_blank">29455773</a><a href="/pmc/articles/PMC5902911" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28691412">Rehabilitation in multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kubsik-Gidlewska AM,
|
||
Klimkiewicz P,
|
||
Klimkiewicz R,
|
||
Janczewska K,
|
||
Woldańska-Okońska M</span><br />
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Höglinger GU,
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Respondek G,
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Stamelou M,
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Kurz C,
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Josephs KA,
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Lang AE,
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Mollenhauer B,
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Müller U,
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Whitwell JL,
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Pantelyat A,
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van Swieten JC,
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Troakes C,
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Antonini A,
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Bhatia KP,
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Bordelon Y,
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Compta Y,
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Corvol JC,
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Colosimo C,
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Dodel R,
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Ferguson L,
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Grossman M,
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Kassubek J,
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Krismer F,
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Levin J,
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Lorenzl S,
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Nestor P,
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Litvan I;
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2017 Jun;32(6):853-864.
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Epub 2017 May 3
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<span class="bold">PMID: </span><a href="/pubmed/28467028" target="_blank">28467028</a><a href="/pmc/articles/PMC5516529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21629203">Takotsubo cardiomyopathy--a clinical review.</a></div>
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Akinesia%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 (435)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33060286">Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Ravenscroft G,
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Clayton JS,
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Faiz F,
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Sivadorai P,
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Milnes D,
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Cincotta R,
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Moon P,
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Kamien B,
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Colley A,
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<span class="bold">PMID: </span><a href="/pubmed/33060286" target="_blank">33060286</a><a href="/pmc/articles/PMC8328565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11346025">Corticobasal degeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stover NP,
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<div class="nl"><a target="_blank" href="/pubmed/10923984">Functional anatomy of movement disorders.</a></div>
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2000 May;196 ( Pt 4)(Pt 4):519-25.
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/2209907">Peribulbar versus retrobulbar anaesthesia.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Akinesia%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 (695)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36906095">Efficacy of Adjuvants in Ophthalmic Regional Anesthesia: A Systematic Review and Network Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bodenbender JP,
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Eberhart L,
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Paul C,
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Wiesmann T,
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Schubert F,
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Dinges HC</span><br />
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<span class="medgenPMjournal">Am J Ophthalmol</span>
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||
2023 Aug;252:26-44.
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||
Epub 2023 Mar 9
|
||
doi: 10.1016/j.ajo.2023.02.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36906095" target="_blank">36906095</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30262859">Frequency-dependent effects of subthalamic deep brain stimulation on motor symptoms in Parkinson's disease: a meta-analysis of controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Su D,
|
||
Chen H,
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||
Hu W,
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||
Liu Y,
|
||
Wang Z,
|
||
Wang X,
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||
Liu G,
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||
Ma H,
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||
Zhou J,
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Feng T</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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||
2018 Sep 27;8(1):14456.
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||
doi: 10.1038/s41598-018-32161-3.
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||
<span class="bold">PMID: </span><a href="/pubmed/30262859" target="_blank">30262859</a><a href="/pmc/articles/PMC6160461" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28500752">Which ante mortem clinical features predict progressive supranuclear palsy pathology?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Respondek G,
|
||
Kurz C,
|
||
Arzberger T,
|
||
Compta Y,
|
||
Englund E,
|
||
Ferguson LW,
|
||
Gelpi E,
|
||
Giese A,
|
||
Irwin DJ,
|
||
Meissner WG,
|
||
Nilsson C,
|
||
Pantelyat A,
|
||
Rajput A,
|
||
van Swieten JC,
|
||
Troakes C,
|
||
Josephs KA,
|
||
Lang AE,
|
||
Mollenhauer B,
|
||
Müller U,
|
||
Whitwell JL,
|
||
Antonini A,
|
||
Bhatia KP,
|
||
Bordelon Y,
|
||
Corvol JC,
|
||
Colosimo C,
|
||
Dodel R,
|
||
Grossman M,
|
||
Kassubek J,
|
||
Krismer F,
|
||
Levin J,
|
||
Lorenzl S,
|
||
Morris H,
|
||
Nestor P,
|
||
Oertel WH,
|
||
Rabinovici GD,
|
||
Rowe JB,
|
||
van Eimeren T,
|
||
Wenning GK,
|
||
Boxer A,
|
||
Golbe LI,
|
||
Litvan I,
|
||
Stamelou M,
|
||
Höglinger GU;
|
||
Movement Disorder Society-Endorsed PSP Study Group</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2017 Jul;32(7):995-1005.
|
||
Epub 2017 May 13
|
||
doi: 10.1002/mds.27034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28500752" target="_blank">28500752</a><a href="/pmc/articles/PMC5543934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26453387">Sensor-based evaluation and treatment of nocturnal hypokinesia in Parkinson's disease: An evidence-based review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhidayasiri R,
|
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Sringean J,
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Thanawattano C</span><br />
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<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
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2016 Jan;22 Suppl 1:S127-33.
|
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Epub 2015 Sep 30
|
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doi: 10.1016/j.parkreldis.2015.09.049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26453387" target="_blank">26453387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26133124">Peribulbar versus retrobulbar anaesthesia for cataract surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alhassan MB,
|
||
Kyari F,
|
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Ejere HO</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
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2015 Jul 2;2015(7):CD004083.
|
||
doi: 10.1002/14651858.CD004083.pub3.
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<span class="bold">PMID: </span><a href="/pubmed/26133124" target="_blank">26133124</a><a href="/pmc/articles/PMC7175781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Akinesia%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 (10)</a></div></div>
|
||
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|
||
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Akinesia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22akinesia%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Akinesia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Akinesia" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Akinesia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Akinesia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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