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<meta name="keywords" content="C0751093, dystonia, limb, limb dystonia, sign or symptom, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=152944
ConceptID=C0751093
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Limb dystonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152944</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0751093</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Dystonia, Limb; Limb Dystonia</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002451">HP:0002451</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751093[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=152944">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=152944" ref="ncbi_uid=152944">V</a></span></span><span class="TLline">Limb dystonia</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 Abnormality of movement">Abnormality of movement</a></span><ul><li><span class="TLline"><a href="/medgen/3940" ref="tree=MeSH" title="MedGen record for Dystonic disorder">Dystonic disorder</a></span><ul><li><span class="matched_ds">Limb dystonia</span><ul><li><span class="TLline"><a href="/medgen/1671069" ref="tree=MeSH" title="MedGen record for Arm dystonia">Arm dystonia</a></span></li><li><span class="TLline"><a href="/medgen/1671070" ref="tree=MeSH" title="MedGen record for Leg dystonia">Leg dystonia</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 class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_42426"><div><strong>Wilson disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42426</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0019202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42426">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163237"><div><strong>Partington syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163237</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Partington syndrome (PRTS) is an X-linked developmental disorder characterized by impaired intellectual development and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (see 308350) to nonsyndromic intellectual disability (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163237">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_220945"><div><strong>Deficiency of aromatic-L-amino-acid decarboxylase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220945</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1291564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with aromatic L-amino acid decarboxylase (AADC) deficiency typically have complex symptoms, including motor, behavioral, cognitive, and autonomic findings. Symptom onset is in early infancy, typically within the first six months of life. The most common initial symptoms are often nonspecific, and include feeding difficulties, hypotonia, and developmental delay. More specific symptoms include oculogyric crises (which occur in the vast majority of affected individuals, typically starting in infancy), movement disorders (especially dystonia), and autonomic dysfunction (excessive sweating, temperature instability, ptosis, nasal congestion, hypoglycemic episodes). Sleep disturbance is present in a majority of affected individuals and can include insomnia, hypersomnia, or both. Mood disturbance, including irritability and anxiety, are also common. Brain MRI is typically either normal or may demonstrate nonspecific abnormalities, such as mild diffuse cerebral atrophy or delayed myelination. Seizures are an uncommon finding, occurring in fewer than 5% of affected individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/220945">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_236274"><div><strong>Torsion dystonia 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>236274</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1414216</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009).&#13; Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/236274">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335918"><div><strong>Torsion dystonia 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335918</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1843264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335918">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_342124"><div><strong>Torsion dystonia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1851943</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dystonia-4 (DYT4), also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342124">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_382128"><div><strong>Autosomal recessive DOPA responsive dystonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2673535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by pathogenic variants in TH are divided into (1) TH-deficient dopa-responsive dystonia (the mild form of TH deficiency), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form). In individuals with TH-deficient dopa-responsive dystonia (DYT5b, DYT-TH), onset is between age 12 months and 12 years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present. In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, intellectual disability, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/382128">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_436979"><div><strong>Dystonia 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2677567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.\n\nThe signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).\n\nIn dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.\n\nSome people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.\n\nThe signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436979">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_761274"><div><strong>Dystonia 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761274</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3538999</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/761274">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767287"><div><strong>Intellectual developmental disorder with autism and macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767287</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD) is characterized by generalized overgrowth, developmental delay / intellectual disability (DD/ID), autism spectrum disorder (ASD), neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues The most common findings are the development of macrocephaly (most often during infancy) and tall stature (most typically during puberty), which is often accompanied by ASD and/or DD/ID. Most, if not all, affected individuals have some degree of DD, most commonly speech and motor delays. When present, ID is most often in the mild-to-moderate range. Sleep disturbance is characterized by difficulty with both initiation (delayed sleep onset) and maintenance (frequent night awakenings) of sleep. The most common gastrointestinal issue is constipation with or without periods of diarrhea. Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767287">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)&#10;Click for more information.">C4225186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/896607">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_907580"><div><strong>Dystonia 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907580</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dystonia-27 (DYT27) is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/907580">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_908570"><div><strong>Developmental and epileptic encephalopathy, 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908570</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by Simons et al., 2015).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/908570">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_930339"><div><strong>Dystonia 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>930339</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4304670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">DYT-GNAL caused by a heterozygous GNAL pathogenic variant has been reported in more than 60 individuals to date. It is characterized by adult-onset isolated dystonia (i.e., no neurologic abnormalities other than tremor are evident on neurologic examination). The dystonia is most commonly focal and segmental, and rarely generalized. Dystonia is typically cervical in onset and commonly progresses to the cranial region (oromandibular/jaw, larynx, eyelids) and/or to one arm. Tremor reported in DYT-GNAL may be dystonic (i.e., occurring in a body part that shows at least minimal signs of dystonia) and may precede or follow the onset of dystonia. Intra- and interfamilial variability is considerable. DYT-GNAL caused by biallelic GNAL pathogenic variants, reported to date in two sibs from a consanguineous family, is characterized by mild intellectual disability and childhood-onset hypertonia that progresses to generalized dystonia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/930339">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934732"><div><strong>Hypermanganesemia with dystonia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934732</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SLC39A14 deficiency is typically characterized by evidence of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance) between ages six months and three years. Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. By the end of the first decade, they develop severe, generalized, pharmaco-resistant dystonia, limb contractures, and scoliosis, and lose independent ambulation. Cognitive impairment appears to be less prominent than motor disability. Some affected children have died in their first decade due to secondary complications such as respiratory infections. One individual with disease onset during the late teens has been reported, suggesting that milder adult presentation can occur.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934732">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934741"><div><strong>Intellectual disability, autosomal dominant 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934741</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934741">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1382553"><div><strong>Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1382553</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4479653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">NKX6-2-related disorder is characterized by a spectrum of progressive neurologic manifestations resulting from diffuse central nervous system hypomyelination. At the severe end of the spectrum is neonatal-onset nystagmus, severe spastic tetraplegia with joint contractures and scoliosis, and visual and hearing impairment, all of which rapidly progress resulting in death in early childhood. At the milder end of the spectrum is normal achievement of early motor milestones in the first year of life followed by slowly progressive complex spastic ataxia with pyramidal findings (spasticity with increased muscle tone and difficulty with gait and fine motor coordination) and cerebellar findings (nystagmus, extraocular movement disorder, dysarthria, titubation, and ataxia) with loss of developmental milestones. To date NKX6-2-related disorder has been reported in 25 individuals from 13 families.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1382553">Condition Record</a></div></div>
<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)&#10;Click for more information.">C4551863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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_1647320"><div><strong>Brain small vessel disease 1 with or without ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647320</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1647320">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684813"><div><strong>Siddiqi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684813</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Siddiqi syndrome (SIDDIS) is an autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy (summary by Zazo Seco et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684813">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1713414"><div><strong>Basal ganglia calcification, idiopathic, 8, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713414</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5394199</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by Schottlaender et al., 2020).&#13; For a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1713414">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999).&#13; For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1760275"><div><strong>Mitochondrial complex 4 deficiency, nuclear type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1760275</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 11 (MC4DN11) is an autosomal recessive metabolic disorder characterized by a childhood-onset sensory neuronopathy and additional features which may include hypotonia, cerebellar ataxia, tremor, dystonia, choreoathetosis, and/or dysarthria. Patients may have variable motor delay, speech delay, or impaired intellectual development (summary by Doss et al., 2014; Otero et al., 2019; Xu et al., 2019; Dong et al., 2021).&#13; For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1760275">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1725501"><div><strong>Kaya-Barakat-Masson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1725501</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436856</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">YIF1B-related neurodevelopmental disorder (YIF1B-NDD) is characterized by severe-to-profound developmental delay / intellectual disability with variable motor abnormalities including axial hypotonia, peripheral hypertonia, dystonia, and dyskinesia; absence of speech in most individuals or very limited speech subject to regression; feeding difficulties; seizures; postnatal microcephaly with nonspecific brain MRI abnormalities; and ophthalmologic involvement (strabismus, nystagmus, optic atrophy, and cortical blindness). Some individuals have hypoventilation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1725501">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794239"><div><strong>Dystonia 32</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794239</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5562029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dystonia-32 (DYT32) is an autosomal recessive neurologic disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or posturing. The onset of symptoms is in adulthood, and the disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. There are no additional neurologic signs or symptoms (summary by Monfrini et al., 2021).&#13; In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT32 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794239">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794264"><div><strong>Dystonia 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794264</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5562054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794264">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1801540"><div><strong>Neurodegeneration, childhood-onset, with progressive microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801540</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5676972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable: the most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss (Lam et al., 2019 and Vanoevelen et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1801540">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1814585"><div><strong>Classic dopamine transporter deficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814585</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5700336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (by age 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic early-onset DTDS: Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development. Atypical later-onset DTDS: Normal psychomotor development in infancy and early childhood. Attention-deficit/hyperactivity disorder (ADHD) is reported in childhood followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term prognosis of this form of DTDS is currently unknown.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1814585">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840948"><div><strong>Leukodystrophy, hypomyelinating, 26, with chondrodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840948</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypomyelinating leukodystrophy-26 with chondrodysplasia (HLD26) is characterized by severe psychomotor delay, predominantly involving motor and expressive language development, with cerebral and cerebellar atrophy and corpus callosum hypoplasia. In addition, patients show pre- and postnatal growth retardation, early-onset scoliosis, and dislocations of large joints (Guasto et al., 2022).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see HLD1 (312080).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840948">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840955"><div><strong>Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840955</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities (NEDSMB) is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present (Faqeih et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840955">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive DOPA responsive dystonia</a></div>
<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>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1713414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basal ganglia calcification, idiopathic, 8, autosomal recessive</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain small vessel disease 1 with or without ocular anomalies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (30)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1814585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Classic dopamine transporter deficiency syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of aromatic-L-amino-acid decarboxylase</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 29</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 16</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 23</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_930339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 25</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 27</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 32</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 33</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermanganesemia with dystonia 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with autism and macrocephaly</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 42</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1725501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kaya-Barakat-Masson syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 26, with chondrodysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1760275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 4 deficiency, nuclear type 11</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, with progressive microcephaly</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Partington syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Siddiqi syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1382553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy</a></div>
<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_335918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_236274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson disease</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/32249176">Patient-reported responses to medical treatment in primary dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Woo KA,
Kim HJ,
Yoo D,
Choi JH,
Shin J,
Park S,
Kim R,
Jeon B</span><br />
<span class="medgenPMjournal">J Clin Neurosci</span>
2020 May;75:242-244.
Epub 2020 Apr 2
doi: 10.1016/j.jocn.2020.03.025.
<span class="bold">PMID: </span><a href="/pubmed/32249176" target="_blank">32249176</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23380701">Evidence-based review and assessment of botulinum neurotoxin for the treatment of movement disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hallett M,
Albanese A,
Dressler D,
Segal KR,
Simpson DM,
Truong D,
Jankovic J</span><br />
<span class="medgenPMjournal">Toxicon</span>
2013 Jun 1;67:94-114.
Epub 2013 Feb 4
doi: 10.1016/j.toxicon.2012.12.004.
<span class="bold">PMID: </span><a href="/pubmed/23380701" target="_blank">23380701</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11889247">Accuracy of muscle localization without EMG: implications for treatment of limb dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Molloy FM,
Shill HA,
Kaelin-Lang A,
Karp BI</span><br />
<span class="medgenPMjournal">Neurology</span>
2002 Mar 12;58(5):805-7.
doi: 10.1212/wnl.58.5.805.
<span class="bold">PMID: </span><a href="/pubmed/11889247" target="_blank">11889247</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22limb%20dystonia%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 (15)</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/38429083">Does sex influence the natural history of idiopathic adult-onset dystonia?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Velucci V,
Idrissi S,
Pellicciari R,
Esposito M,
Trinchillo A,
Belvisi D,
Fabbrini G,
Ferrazzano G,
Terranova C,
Girlanda P,
Majorana G,
Rizzo V,
Bono F,
Idone G,
Laterza V,
Avanzino L,
Di Biasio F,
Marchese R,
Castagna A,
Ramella M,
Lettieri C,
Rinaldo S,
Altavista MC,
Polidori L,
Bertolasi L,
Tozzi MC,
Erro R,
Barone P,
Barbero P,
Ceravolo R,
Mascia MM,
Ercoli T,
Muroni A,
Artusi CA,
Zibetti M,
Scaglione CLM,
Bentivoglio AR,
Cotelli MS,
Magistrelli L,
Cossu G,
Albanese A,
Squintani GM,
Schirinzi T,
Gigante AF,
Maderna L,
Eleopra R,
Pisani A,
Cassano D,
Romano M,
Rizzo M,
Berardelli A,
Defazio G;
Italian Dystonia Registry Participants</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2024 Jul 15;95(8):784-790.
doi: 10.1136/jnnp-2023-332927.
<span class="bold">PMID: </span><a href="/pubmed/38429083" target="_blank">38429083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35790423">Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tipton PW,
Deutschlaender AB,
Savica R,
Heckman MG,
Brushaber DE,
Dickerson BC,
Gavrilova RH,
Geschwind DH,
Ghoshal N,
Graff-Radford J,
Graff-Radford NR,
Grossman M,
Hsiung GR,
Huey ED,
Irwin DJ,
Jones DT,
Knopman DS,
McGinnis SM,
Rademakers R,
Ramos EM,
Forsberg LK,
Heuer HW,
Onyike C,
Tartaglia C,
Domoto-Reilly K,
Roberson ED,
Mendez MF,
Litvan I,
Appleby BS,
Grant I,
Kaufer D,
Boxer AL,
Rosen HJ,
Boeve BF,
Wszolek ZK;
ALLFTD Consortium</span><br />
<span class="medgenPMjournal">Neurology</span>
2022 Sep 13;99(11):e1154-e1167.
Epub 2022 Jul 5
doi: 10.1212/WNL.0000000000200860.
<span class="bold">PMID: </span><a href="/pubmed/35790423" target="_blank">35790423</a><a href="/pmc/articles/PMC9536745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32662572">Idiopathic Non-task-Specific Upper Limb Dystonia, a Neglected Form of Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Defazio G,
Ercoli T,
Erro R,
Pellicciari R,
Mascia MM,
Fabbrini G,
Albanese A,
Lalli S,
Eleopra R,
Barone P,
Marchese R,
Ceravolo R,
Scaglione C,
Liguori R,
Esposito M,
Bentivoglio AR,
Bertolasi L,
Altavista MC,
Bono F,
Pisani A,
Girlanda P,
Berardelli A;
Italian Dystonia Registry Participants</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2020 Nov;35(11):2038-2045.
Epub 2020 Jul 14
doi: 10.1002/mds.28199.
<span class="bold">PMID: </span><a href="/pubmed/32662572" target="_blank">32662572</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30655163">Sensory trick in upper limb dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dagostino S,
Ercoli T,
Gigante AF,
Pellicciari R,
Fadda L,
Defazio G</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2019 Jun;63:221-223.
Epub 2019 Jan 6
doi: 10.1016/j.parkreldis.2019.01.006.
<span class="bold">PMID: </span><a href="/pubmed/30655163" target="_blank">30655163</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30269178">Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Defazio G,
Albanese A,
Pellicciari R,
Scaglione CL,
Esposito M,
Morgante F,
Abbruzzese G,
Bentivoglio AR,
Bono F,
Coletti Moja M,
Fabbrini G,
Girlanda P,
Lopiano L,
Pacchetti C,
Romano M,
Fadda L,
Berardelli A</span><br />
<span class="medgenPMjournal">Neurol Sci</span>
2019 Jan;40(1):89-95.
Epub 2018 Sep 29
doi: 10.1007/s10072-018-3586-9.
<span class="bold">PMID: </span><a href="/pubmed/30269178" target="_blank">30269178</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb%20dystonia%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 (71)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38871638">Immunotherapy in a case of low titre GAD65 antibody-associated spectrum neurological disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wei M,
Bannout F,
Dastjerdi M,
Phan C,
Batarseh S,
Guo X,
Baker N</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2024 Jun 13;17(6)
doi: 10.1136/bcr-2024-260503.
<span class="bold">PMID: </span><a href="/pubmed/38871638" target="_blank">38871638</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32344043">Deep brain stimulation in dystonia: State of art and future directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Macerollo A,
Sajin V,
Bonello M,
Barghava D,
Alusi SH,
Eldridge PR,
Osman-Farah J</span><br />
<span class="medgenPMjournal">J Neurosci Methods</span>
2020 Jul 1;340:108750.
Epub 2020 Apr 25
doi: 10.1016/j.jneumeth.2020.108750.
<span class="bold">PMID: </span><a href="/pubmed/32344043" target="_blank">32344043</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31965968">Focal limb dystonia and tremor: Clinical update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murgai AA,
Jog M</span><br />
<span class="medgenPMjournal">Toxicon</span>
2020 Mar;176:10-14.
Epub 2020 Jan 13
doi: 10.1016/j.toxicon.2020.01.004.
<span class="bold">PMID: </span><a href="/pubmed/31965968" target="_blank">31965968</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28389587">l-Dopa in dystonia: A modern perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maas RPPWM,
Wassenberg T,
Lin JP,
van de Warrenburg BPC,
Willemsen MAAP</span><br />
<span class="medgenPMjournal">Neurology</span>
2017 May 9;88(19):1865-1871.
Epub 2017 Apr 7
doi: 10.1212/WNL.0000000000003897.
<span class="bold">PMID: </span><a href="/pubmed/28389587" target="_blank">28389587</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9109901">Rapid-onset dystonia-parkinsonism in a second family.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brashear A,
DeLeon D,
Bressman SB,
Thyagarajan D,
Farlow MR,
Dobyns WB</span><br />
<span class="medgenPMjournal">Neurology</span>
1997 Apr;48(4):1066-9.
doi: 10.1212/wnl.48.4.1066.
<span class="bold">PMID: </span><a href="/pubmed/9109901" target="_blank">9109901</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb%20dystonia%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 (115)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33125571">Botulinum toxin therapy of dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dressler D,
Adib Saberi F,
Rosales RL</span><br />
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
2021 Apr;128(4):531-537.
Epub 2020 Oct 30
doi: 10.1007/s00702-020-02266-z.
<span class="bold">PMID: </span><a href="/pubmed/33125571" target="_blank">33125571</a><a href="/pmc/articles/PMC8099791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29286305">Muscle Selection for Focal Limb Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Karp BI,
Alter K</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2017 Dec 29;10(1)
doi: 10.3390/toxins10010020.
<span class="bold">PMID: </span><a href="/pubmed/29286305" target="_blank">29286305</a><a href="/pmc/articles/PMC5793107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28511260">Botulinum Toxin Therapy for Parkinson's Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wagle Shukla A,
Malaty IA</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2017 Apr;37(2):193-204.
Epub 2017 May 16
doi: 10.1055/s-0037-1602246.
<span class="bold">PMID: </span><a href="/pubmed/28511260" target="_blank">28511260</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28389587">l-Dopa in dystonia: A modern perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maas RPPWM,
Wassenberg T,
Lin JP,
van de Warrenburg BPC,
Willemsen MAAP</span><br />
<span class="medgenPMjournal">Neurology</span>
2017 May 9;88(19):1865-1871.
Epub 2017 Apr 7
doi: 10.1212/WNL.0000000000003897.
<span class="bold">PMID: </span><a href="/pubmed/28389587" target="_blank">28389587</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19073203">Disease-oriented approach to botulinum toxin use.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jankovic J</span><br />
<span class="medgenPMjournal">Toxicon</span>
2009 Oct;54(5):614-23.
Epub 2008 Dec 6
doi: 10.1016/j.toxicon.2008.11.013.
<span class="bold">PMID: </span><a href="/pubmed/19073203" target="_blank">19073203</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb%20dystonia%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 (79)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37226038">Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Santos M,
Massano J,
Lopes AM,
Brandão AF,
Freixo JP,
Oliveira J</span><br />
<span class="medgenPMjournal">Neurogenetics</span>
2023 Jul;24(3):215-218.
Epub 2023 May 24
doi: 10.1007/s10048-023-00720-0.
<span class="bold">PMID: </span><a href="/pubmed/37226038" target="_blank">37226038</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35022352">Dystonic Tremor in Adult-onset DYT-KMT2B.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shimazaki R,
Ikezawa J,
Okiyama R,
Azuma K,
Akagawa H,
Takahashi K</span><br />
<span class="medgenPMjournal">Intern Med</span>
2022 Aug 1;61(15):2357-2360.
Epub 2022 Jan 13
doi: 10.2169/internalmedicine.8700-21.
<span class="bold">PMID: </span><a href="/pubmed/35022352" target="_blank">35022352</a><a href="/pmc/articles/PMC9424094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33125571">Botulinum toxin therapy of dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dressler D,
Adib Saberi F,
Rosales RL</span><br />
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
2021 Apr;128(4):531-537.
Epub 2020 Oct 30
doi: 10.1007/s00702-020-02266-z.
<span class="bold">PMID: </span><a href="/pubmed/33125571" target="_blank">33125571</a><a href="/pmc/articles/PMC8099791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32344043">Deep brain stimulation in dystonia: State of art and future directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Macerollo A,
Sajin V,
Bonello M,
Barghava D,
Alusi SH,
Eldridge PR,
Osman-Farah J</span><br />
<span class="medgenPMjournal">J Neurosci Methods</span>
2020 Jul 1;340:108750.
Epub 2020 Apr 25
doi: 10.1016/j.jneumeth.2020.108750.
<span class="bold">PMID: </span><a href="/pubmed/32344043" target="_blank">32344043</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20590804">Focal limb dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pont-Sunyer C,
Martí MJ,
Tolosa E</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2010 Jul;17 Suppl 1:22-7.
doi: 10.1111/j.1468-1331.2010.03046.x.
<span class="bold">PMID: </span><a href="/pubmed/20590804" target="_blank">20590804</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb%20dystonia%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 (49)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37951597">Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kaiyrzhanov R,
Rad A,
Lin SJ,
Bertoli-Avella A,
Kallemeijn WW,
Godwin A,
Zaki MS,
Huang K,
Lau T,
Petree C,
Efthymiou S,
Karimiani EG,
Hempel M,
Normand EA,
Rudnik-Schöneborn S,
Schatz UA,
Baggelaar MP,
Ilyas M,
Sultan T,
Alvi JR,
Ganieva M,
Fowler B,
Aanicai R,
Tayfun GA,
Al Saman A,
Alswaid A,
Amiri N,
Asilova N,
Shotelersuk V,
Yeetong P,
Azam M,
Babaei M,
Monajemi GB,
Mohammadi P,
Samie S,
Banu SH,
Pinto Basto J,
Kortüm F,
Bauer M,
Bauer P,
Beetz C,
Garshasbi M,
Issa AH,
Eyaid W,
Ahmed H,
Hashemi N,
Hassanpour K,
Herman I,
Ibrohimov S,
Abdul-Majeed BA,
Imdad M,
Isrofilov M,
Kaiyal Q,
Khan S,
Kirmse B,
Koster J,
Lourenço CM,
Mitani T,
Moldovan O,
Murphy D,
Najafi M,
Pehlivan D,
Rocha ME,
Salpietro V,
Schmidts M,
Shalata A,
Mahroum M,
Talbeya JK,
Taylor RW,
Vazquez D,
Vetro A,
Waterham HR,
Zaman M,
Schrader TA,
Chung WK,
Guerrini R,
Lupski JR,
Gleeson J,
Suri M,
Jamshidi Y,
Bhatia KP,
Vona B,
Schrader M,
Severino M,
Guille M,
Tate EW,
Varshney GK,
Houlden H,
Maroofian R</span><br />
<span class="medgenPMjournal">Brain</span>
2024 Apr 4;147(4):1436-1456.
doi: 10.1093/brain/awad380.
<span class="bold">PMID: </span><a href="/pubmed/37951597" target="_blank">37951597</a><a href="/pmc/articles/PMC10994533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37226038">Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Santos M,
Massano J,
Lopes AM,
Brandão AF,
Freixo JP,
Oliveira J</span><br />
<span class="medgenPMjournal">Neurogenetics</span>
2023 Jul;24(3):215-218.
Epub 2023 May 24
doi: 10.1007/s10048-023-00720-0.
<span class="bold">PMID: </span><a href="/pubmed/37226038" target="_blank">37226038</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33125571">Botulinum toxin therapy of dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dressler D,
Adib Saberi F,
Rosales RL</span><br />
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
2021 Apr;128(4):531-537.
Epub 2020 Oct 30
doi: 10.1007/s00702-020-02266-z.
<span class="bold">PMID: </span><a href="/pubmed/33125571" target="_blank">33125571</a><a href="/pmc/articles/PMC8099791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32845549">Clinical and Demographic Characteristics of Upper Limb Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Norris SA,
Jinnah HA,
Klein C,
Jankovic J,
Berman BD,
Roze E,
Mahajan A,
Espay AJ,
Murthy AV,
Fung VSC,
LeDoux MS,
Chang FCF,
Vidailhet M,
Testa C,
Barbano R,
Malaty IA,
Bäumer T,
Loens S,
Wright LJ,
Perlmutter JS</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2020 Nov;35(11):2086-2090.
Epub 2020 Aug 26
doi: 10.1002/mds.28223.
<span class="bold">PMID: </span><a href="/pubmed/32845549" target="_blank">32845549</a><a href="/pmc/articles/PMC8350751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32344043">Deep brain stimulation in dystonia: State of art and future directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Macerollo A,
Sajin V,
Bonello M,
Barghava D,
Alusi SH,
Eldridge PR,
Osman-Farah J</span><br />
<span class="medgenPMjournal">J Neurosci Methods</span>
2020 Jul 1;340:108750.
Epub 2020 Apr 25
doi: 10.1016/j.jneumeth.2020.108750.
<span class="bold">PMID: </span><a href="/pubmed/32344043" target="_blank">32344043</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb%20dystonia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (70)</a></div></div>
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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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/34092466">Investigating DYT1 in a Taiwanese dystonia cohort.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu MC,
Chang YY,
Chen YF,
Lan MY,
Chen PL,
Tai CH,
Lin CH</span><br />
<span class="medgenPMjournal">J Formos Med Assoc</span>
2022 Jan;121(1 Pt 2):375-380.
Epub 2021 Jun 4
doi: 10.1016/j.jfma.2021.05.017.
<span class="bold">PMID: </span><a href="/pubmed/34092466" target="_blank">34092466</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34363292">The prevalence of anxiety in adult-onset isolated dystonia: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Medina Escobar A,
Martino D,
Goodarzi Z</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2021 Dec;28(12):4238-4250.
Epub 2021 Aug 16
doi: 10.1111/ene.15050.
<span class="bold">PMID: </span><a href="/pubmed/34363292" target="_blank">34363292</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27173653">The anatomical basis of upper limb dystonia: lesson from secondary cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liuzzi D,
Gigante AF,
Leo A,
Defazio G</span><br />
<span class="medgenPMjournal">Neurol Sci</span>
2016 Sep;37(9):1393-8.
Epub 2016 May 12
doi: 10.1007/s10072-016-2598-6.
<span class="bold">PMID: </span><a href="/pubmed/27173653" target="_blank">27173653</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb%20dystonia%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>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0751093%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
<li><a href="/gtr/tests?term=C0751093%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751093%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Limb%20dystonia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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