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<meta name="keywords" content="C0240991, afferent ataxia, ataxia, sensory, ataxias, sensory, sensory ataxia, sensory ataxias, sign or symptom, spinal ataxia, 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="Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Sensory ataxia (Concept Id: C0240991)
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<!--
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-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Sensory ataxia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66020</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:">C0240991</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>Ataxia, Sensory; Ataxias, Sensory; Sensory Ataxia; Sensory Ataxias</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Sensory ataxia (445458007)</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:0010871">HP:0010871</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0100311" target="_blank">MONDO:0100311</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">Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. [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>
<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">Sensory ataxia</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/1790456" ref="tree=MeSH" title="MedGen record for Somatic sensory dysfunction">Somatic sensory dysfunction</a></span><ul><li><span class="TLline"><a href="/medgen/346424" ref="tree=MeSH" title="MedGen record for Impaired proprioception">Impaired proprioception</a></span><ul><li><span class="matched_ds">Sensory ataxia</span></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_3710"><div><strong>Dejerine-Sottas disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3710</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.">C0011195</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3710">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373087"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373087</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.">C1836439</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).&#13; PEO caused by mutations in the POLG gene (174763) is associated with more complicated phenotypes than PEO caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373087">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_324636"><div><strong>Posterior column ataxia-retinitis pigmentosa syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324636</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.">C1836916</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Retinopathy-sensory neuropathy syndrome (RETSNS) is an autosomal recessive disorder characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain). Affected individuals have noncerebellar gait ataxia, presumably due to degeneration of dorsal root ganglia in the posterior column of the spinal cord. The phenotypic manifestations and severity of the disorder are highly variable, and the age at onset can range from infancy to young adulthood. Individuals can present with either visual problems or sensory impairment with gait ataxia, but most patients eventually develop both. More severely affected individuals have congenital insensitivity to pain presenting in infancy, resulting in chronic ulceration and osteomyelitis. Autonomic abnormalities may also be apparent, consistent with hereditary sensory and autonomic neuropathy (HSAN; see, e.g., 162400). Developmental delay or impaired intellectual development is sometimes observed (Higgins et al., 1997; Grudzinska Pechhacker et al., 2020; Calame et al., 2025).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324636">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_332346"><div><strong>Autosomal dominant sensory ataxia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332346</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.">C1837015</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant sensory ataxia-1 (SNAX1) is a peripheral neuropathy resulting from the degeneration of dorsal root ganglia that affects both central and peripheral neurites of sensory neurons. Affected individuals show adult onset of slowly progressive clumsiness, gait ataxia, walking difficulties, and distal sensory loss which may be associated with abnormal sensory nerve conduction values. Some patients have vestibular ocular dysfunction. Muscle weakness and atrophy are not observed, and brain imaging is normal (summary by Cortese et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332346">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_375302"><div><strong>Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375302</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.">C1843851</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375302">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462080"><div><strong>Hemolytic anemia due to glucophosphate isomerase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462080</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.">C3150730</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.\n\nHemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.\n\nA small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462080">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_761704"><div><strong>Charcot-Marie-Tooth disease type 4F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761704</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.">C3540453</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Charcot-Marie-Tooth disease type 4F (CMT4F) is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS; 145900).&#13; For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/761704">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863873"><div><strong>Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863873</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.">C4015436</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive multisystem disorder including defects in glucose metabolism, diffuse neurodegeneration, multiple hormone deficiencies, severe growth retardation with possible growth hormone deficiencies, and subtle osseous changes suggesting early-onset bone dysplasia (summary by Ozon et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863873">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934659"><div><strong>Arthrogryposis, distal, with impaired proprioception and touch</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934659</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.">C4310692</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934659">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648446"><div><strong>Neuropathy, congenital hypomyelinating, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648446</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.">C4722277</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by Warner et al., 1996).&#13; CHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; 145900), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by Smit et al., 2008).&#13; For a discussion of genetic heterogeneity of CHN, see CHN1 (605253).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648446">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1731194"><div><strong>Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1731194</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.">C5435765</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial axonal Charcot-Marie-Tooth disease (CMTMA) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1731194">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794254"><div><strong>Leukoencephalopathy, hereditary diffuse, with spheroids 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794254</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.">C5562044</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary diffuse leukoencephalopathy with spheroids-2 (HDLS2) is an autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects (summary by Sundal et al., 2012).&#13; For a discussion of genetic heterogeneity of HDLS, see HDLS1 (221820).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794254">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1800473"><div><strong>Charcot-Marie-Tooth disease axonal type 2V</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800473</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.">C5569050</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1800473">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824020"><div><strong>Spastic paraplegia 88, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824020</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.">C5774247</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant spastic paraplegia-88 (SPG88) is characterized by onset of symptoms in the first year of life. Affected individuals show delayed motor development with walking difficulties due to spasticity of the lower limbs. The disorder is slowly progressive, but variable in severity; some patients are unable to ambulate independently. Most patients have a pure form of the disorder, although rare patients have been reported to have additional features, including peripheral neuropathy, speech delay, ADHD, and nonspecific brain imaging abnormalities (Schob et al., 2021, Estiar et al., 2022, De Winter et al., 2022).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824020">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824073"><div><strong>Spastic paraplegia 79A, autosomal dominant, with ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824073</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.">C5774300</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant spastic paraplegia-79A with ataxia (SPG79A) is a slowly progressive neurodegenerative disorder characterized predominantly by cerebellar and/or sensory ataxia and spasticity of the lower limbs leading to gait difficulties. The onset is usually in adulthood (median age of 49 years), but can range from childhood to age 70. Additional common features include sensorimotor neuropathy and visual impairment with optic atrophy. The disorder is slowly progressive (Park et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824073">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, with impaired proprioception and touch</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant sensory ataxia 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2V</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4F</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1731194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dejerine-Sottas disease</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462080" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia due to glucophosphate isomerase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863873" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794254" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy, hereditary diffuse, with spheroids 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, congenital hypomyelinating, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior column ataxia-retinitis pigmentosa syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 79A, autosomal dominant, with ataxia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 88, autosomal dominant</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/39823553">Clinical Manifestations and Treatment Responses in Pediatric Neurofascin 155-IgG4 Autoimmune Nodopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rashed HR,
Paramasivan NK,
Selcen D,
Dyck PJB,
Thakolwiboon S,
Mauermann ML,
Mills J,
Dubey D</span><br />
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
2025 Mar;12(2):e200368.
Epub 2025 Jan 17
doi: 10.1212/NXI.0000000000200368.
<span class="bold">PMID: </span><a href="/pubmed/39823553" target="_blank">39823553</a><a href="/pmc/articles/PMC11744604" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37090712">Rehabilitation treatment of multiple sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Duan H,
Jing Y,
Li Y,
Lian Y,
Li J,
Li Z</span><br />
<span class="medgenPMjournal">Front Immunol</span>
2023;14:1168821.
Epub 2023 Apr 6
doi: 10.3389/fimmu.2023.1168821.
<span class="bold">PMID: </span><a href="/pubmed/37090712" target="_blank">37090712</a><a href="/pmc/articles/PMC10117641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12422305">Clinical aspects and molecular basis of oxaliplatin neurotoxicity: current management and development of preventive measures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gamelin E,
Gamelin L,
Bossi L,
Quasthoff S</span><br />
<span class="medgenPMjournal">Semin Oncol</span>
2002 Oct;29(5 Suppl 15):21-33.
doi: 10.1053/sonc.2002.35525.
<span class="bold">PMID: </span><a href="/pubmed/12422305" target="_blank">12422305</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22sensory%20ataxia%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 (6)</a></div></div>
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<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/33650927">Sandhoff disease in the elderly: a case study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">García Morales L,
Mustelier Bécquer RG,
Pérez Joglar L,
Zaldívar Vaillant T</span><br />
<span class="medgenPMjournal">Amyotroph Lateral Scler Frontotemporal Degener</span>
2022 Feb;23(1-2):137-138.
Epub 2021 Mar 2
doi: 10.1080/21678421.2021.1892146.
<span class="bold">PMID: </span><a href="/pubmed/33650927" target="_blank">33650927</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32959046">CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Le Cann M,
Bouhour F,
Viala K,
Simon L,
Tard C,
Rossi C,
Morel G,
Lagrange E,
Magy L,
Créange A,
Michaud M,
Franques J,
Echaniz-Laguna A,
Antoine JC,
Baron M,
Arnulf B,
Puma A,
Delmont E,
Maisonobe T,
Leblond V,
Roos-Weil D</span><br />
<span class="medgenPMjournal">Blood</span>
2020 Nov 19;136(21):2428-2436.
doi: 10.1182/blood.2020007092.
<span class="bold">PMID: </span><a href="/pubmed/32959046" target="_blank">32959046</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25678358">Neuroimaging in Sensory Neuronopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Casseb RF,
Martinez AR,
de Paiva JL,
França MC Jr</span><br />
<span class="medgenPMjournal">J Neuroimaging</span>
2015 Sep-Oct;25(5):704-9.
Epub 2015 Feb 10
doi: 10.1111/jon.12210.
<span class="bold">PMID: </span><a href="/pubmed/25678358" target="_blank">25678358</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22027213">Neuroacanthocytosis syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jung HH,
Danek A,
Walker RH</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2011 Oct 25;6:68.
doi: 10.1186/1750-1172-6-68.
<span class="bold">PMID: </span><a href="/pubmed/22027213" target="_blank">22027213</a><a href="/pmc/articles/PMC3212896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18546365">Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wong LJ,
Naviaux RK,
Brunetti-Pierri N,
Zhang Q,
Schmitt ES,
Truong C,
Milone M,
Cohen BH,
Wical B,
Ganesh J,
Basinger AA,
Burton BK,
Swoboda K,
Gilbert DL,
Vanderver A,
Saneto RP,
Maranda B,
Arnold G,
Abdenur JE,
Waters PJ,
Copeland WC</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2008 Sep;29(9):E150-72.
doi: 10.1002/humu.20824.
<span class="bold">PMID: </span><a href="/pubmed/18546365" target="_blank">18546365</a><a href="/pmc/articles/PMC2891192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sensory%20ataxia%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 (79)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39230846">Pseudodominance in RFC1-Spectrum Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Falcone GMI,
Tessa A,
Arena IG,
Barghigiani M,
Migliorato A,
Incensi A,
Rodolico C,
Donadio V,
Santorelli FM,
Musumeci O</span><br />
<span class="medgenPMjournal">Cerebellum</span>
2024 Dec;23(6):2622-2628.
Epub 2024 Sep 4
doi: 10.1007/s12311-024-01735-5.
<span class="bold">PMID: </span><a href="/pubmed/39230846" target="_blank">39230846</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37066588">Intestinal giardiasis presenting as acute sensory ataxia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koshy KG,
Nashi S,
Kulkarni GB,
Nandeesh BN</span><br />
<span class="medgenPMjournal">Postgrad Med J</span>
2022 Feb 1;98(e1):e34-e35.
doi: 10.1136/postgradmedj-2021-140742.
<span class="bold">PMID: </span><a href="/pubmed/37066588" target="_blank">37066588</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34135093">Sensory ataxia with cranial nerve palsies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grundmann A,
Hardwick M,
Ledingham D,
Miller J</span><br />
<span class="medgenPMjournal">Pract Neurol</span>
2022 Feb;22(1):85-89.
Epub 2021 Jun 16
doi: 10.1136/practneurol-2021-003044.
<span class="bold">PMID: </span><a href="/pubmed/34135093" target="_blank">34135093</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30451971">POLG-related disorders and their neurological manifestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman S,
Copeland WC</span><br />
<span class="medgenPMjournal">Nat Rev Neurol</span>
2019 Jan;15(1):40-52.
doi: 10.1038/s41582-018-0101-0.
<span class="bold">PMID: </span><a href="/pubmed/30451971" target="_blank">30451971</a><a href="/pmc/articles/PMC8796686" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27770207">Gait disorders in adults and the elderly : A clinical guide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pirker W,
Katzenschlager R</span><br />
<span class="medgenPMjournal">Wien Klin Wochenschr</span>
2017 Feb;129(3-4):81-95.
Epub 2016 Oct 21
doi: 10.1007/s00508-016-1096-4.
<span class="bold">PMID: </span><a href="/pubmed/27770207" target="_blank">27770207</a><a href="/pmc/articles/PMC5318488" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sensory%20ataxia%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 (162)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34427020">Nitrous oxide-induced myeloneuropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Swart G,
Blair C,
Lu Z,
Yogendran S,
Offord J,
Sutherland E,
Barnes S,
Palavra N,
Cremer P,
Bolitho S,
Michael Halmagyi G</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2021 Dec;28(12):3938-3944.
Epub 2021 Sep 6
doi: 10.1111/ene.15077.
<span class="bold">PMID: </span><a href="/pubmed/34427020" target="_blank">34427020</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32959046">CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Le Cann M,
Bouhour F,
Viala K,
Simon L,
Tard C,
Rossi C,
Morel G,
Lagrange E,
Magy L,
Créange A,
Michaud M,
Franques J,
Echaniz-Laguna A,
Antoine JC,
Baron M,
Arnulf B,
Puma A,
Delmont E,
Maisonobe T,
Leblond V,
Roos-Weil D</span><br />
<span class="medgenPMjournal">Blood</span>
2020 Nov 19;136(21):2428-2436.
doi: 10.1182/blood.2020007092.
<span class="bold">PMID: </span><a href="/pubmed/32959046" target="_blank">32959046</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25564640">An unusual presentation of ulcerative colitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kesav P,
Khurana D</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2015 Jan 6;2015
doi: 10.1136/bcr-2014-207181.
<span class="bold">PMID: </span><a href="/pubmed/25564640" target="_blank">25564640</a><a href="/pmc/articles/PMC4289803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22429755">Atypical forms of Guillain-Barré syndrome and H1N1-influenza vaccination.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shaikh AG,
Termsarasab P,
Nwankwo C,
Rao-Frisch A,
Katirji B</span><br />
<span class="medgenPMjournal">Vaccine</span>
2012 May 9;30(22):3251-4.
Epub 2012 Mar 17
doi: 10.1016/j.vaccine.2012.03.013.
<span class="bold">PMID: </span><a href="/pubmed/22429755" target="_blank">22429755</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15249607">Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar N,
Gross JB Jr,
Ahlskog JE</span><br />
<span class="medgenPMjournal">Neurology</span>
2004 Jul 13;63(1):33-9.
doi: 10.1212/01.wnl.0000132644.52613.fa.
<span class="bold">PMID: </span><a href="/pubmed/15249607" target="_blank">15249607</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sensory%20ataxia%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 (73)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38767661">Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Coly M,
Adams D,
Attarian S,
Bouhour F,
Camdessanché JP,
Carey G,
Cauquil C,
Chanson JB,
Chrétien P,
Créange A,
Delmont E,
Fargeot G,
Frachet S,
Gendre T,
Kuntzer T,
Labeyrie C,
Maisonobe T,
Michaud M,
Moulin M,
Nicolas G,
Noury JB,
Péréon Y,
Puma A,
Sole G,
Taithe F,
Tard C,
Théaudin M,
Timsit S,
Venditti L,
Echaniz-Laguna A</span><br />
<span class="medgenPMjournal">J Neurol</span>
2024 Aug;271(8):4982-4990.
Epub 2024 May 20
doi: 10.1007/s00415-024-12410-4.
<span class="bold">PMID: </span><a href="/pubmed/38767661" target="_blank">38767661</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25564640">An unusual presentation of ulcerative colitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kesav P,
Khurana D</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2015 Jan 6;2015
doi: 10.1136/bcr-2014-207181.
<span class="bold">PMID: </span><a href="/pubmed/25564640" target="_blank">25564640</a><a href="/pmc/articles/PMC4289803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22283595">Mitochondrial disease and epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman S</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
2012 May;54(5):397-406.
Epub 2012 Jan 28
doi: 10.1111/j.1469-8749.2011.04214.x.
<span class="bold">PMID: </span><a href="/pubmed/22283595" target="_blank">22283595</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22027213">Neuroacanthocytosis syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jung HH,
Danek A,
Walker RH</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2011 Oct 25;6:68.
doi: 10.1186/1750-1172-6-68.
<span class="bold">PMID: </span><a href="/pubmed/22027213" target="_blank">22027213</a><a href="/pmc/articles/PMC3212896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18546365">Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wong LJ,
Naviaux RK,
Brunetti-Pierri N,
Zhang Q,
Schmitt ES,
Truong C,
Milone M,
Cohen BH,
Wical B,
Ganesh J,
Basinger AA,
Burton BK,
Swoboda K,
Gilbert DL,
Vanderver A,
Saneto RP,
Maranda B,
Arnold G,
Abdenur JE,
Waters PJ,
Copeland WC</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2008 Sep;29(9):E150-72.
doi: 10.1002/humu.20824.
<span class="bold">PMID: </span><a href="/pubmed/18546365" target="_blank">18546365</a><a href="/pmc/articles/PMC2891192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sensory%20ataxia%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 (55)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34427020">Nitrous oxide-induced myeloneuropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Swart G,
Blair C,
Lu Z,
Yogendran S,
Offord J,
Sutherland E,
Barnes S,
Palavra N,
Cremer P,
Bolitho S,
Michael Halmagyi G</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2021 Dec;28(12):3938-3944.
Epub 2021 Sep 6
doi: 10.1111/ene.15077.
<span class="bold">PMID: </span><a href="/pubmed/34427020" target="_blank">34427020</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32556571">The ataxic neuropathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mathis S,
Duval F,
Soulages A,
Solé G,
Le Masson G</span><br />
<span class="medgenPMjournal">J Neurol</span>
2021 Oct;268(10):3675-3689.
Epub 2020 Jun 15
doi: 10.1007/s00415-020-09994-y.
<span class="bold">PMID: </span><a href="/pubmed/32556571" target="_blank">32556571</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32959046">CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Le Cann M,
Bouhour F,
Viala K,
Simon L,
Tard C,
Rossi C,
Morel G,
Lagrange E,
Magy L,
Créange A,
Michaud M,
Franques J,
Echaniz-Laguna A,
Antoine JC,
Baron M,
Arnulf B,
Puma A,
Delmont E,
Maisonobe T,
Leblond V,
Roos-Weil D</span><br />
<span class="medgenPMjournal">Blood</span>
2020 Nov 19;136(21):2428-2436.
doi: 10.1182/blood.2020007092.
<span class="bold">PMID: </span><a href="/pubmed/32959046" target="_blank">32959046</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27770207">Gait disorders in adults and the elderly : A clinical guide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pirker W,
Katzenschlager R</span><br />
<span class="medgenPMjournal">Wien Klin Wochenschr</span>
2017 Feb;129(3-4):81-95.
Epub 2016 Oct 21
doi: 10.1007/s00508-016-1096-4.
<span class="bold">PMID: </span><a href="/pubmed/27770207" target="_blank">27770207</a><a href="/pmc/articles/PMC5318488" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18546365">Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wong LJ,
Naviaux RK,
Brunetti-Pierri N,
Zhang Q,
Schmitt ES,
Truong C,
Milone M,
Cohen BH,
Wical B,
Ganesh J,
Basinger AA,
Burton BK,
Swoboda K,
Gilbert DL,
Vanderver A,
Saneto RP,
Maranda B,
Arnold G,
Abdenur JE,
Waters PJ,
Copeland WC</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2008 Sep;29(9):E150-72.
doi: 10.1002/humu.20824.
<span class="bold">PMID: </span><a href="/pubmed/18546365" target="_blank">18546365</a><a href="/pmc/articles/PMC2891192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sensory%20ataxia%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 (61)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38909910">Copper deficiency myelopathy mimicking cervical spondylitic myelopathy: a systematic review of the literature with case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen JW,
Zeoli T,
Hughes NC,
Lane A,
Berkman RA</span><br />
<span class="medgenPMjournal">Spine J</span>
2024 Nov;24(11):2026-2034.
Epub 2024 Jun 21
doi: 10.1016/j.spinee.2024.06.018.
<span class="bold">PMID: </span><a href="/pubmed/38909910" target="_blank">38909910</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sensory%20ataxia%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 (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Sensory%20ataxia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22sensory%20ataxia%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(%22Sensory%20ataxia%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&amp;query=Sensory%20ataxia" target="_blank">MedlinePlus</a></li></ul></div>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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