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<!--
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||
UID=355274
|
||
ConceptID=C1864715
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thenar muscle atrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355274</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Atrophy of thenar muscles; Thenar atrophy</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:0003393">HP:0003393</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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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>
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||
<div class="portlet_content ln">Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. [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>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Thenar muscle atrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892680" ref="tree=MeSH" title="MedGen record for Muscular atrophy">Muscular atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/867165" ref="tree=MeSH" title="MedGen record for Upper limb amyotrophy">Upper limb amyotrophy</a></span><ul><li><span class="TLline"><a href="/medgen/867223" ref="tree=MeSH" title="MedGen record for Distal upper limb amyotrophy">Distal upper limb amyotrophy</a></span><ul><li><span class="TLline"><a href="/medgen/116091" ref="tree=MeSH" title="MedGen record for Hand muscle atrophy">Hand muscle atrophy</a></span><ul><li><span class="matched_ds">Thenar muscle atrophy</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_88566"><div><strong>Mucopolysaccharidosis, MPS-I-H/S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88566</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0086431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I: Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I: Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88566">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_316946"><div><strong>Charcot-Marie-Tooth disease type 2D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316946</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of GARS1-associated axonal neuropathy ranges from GARS1 infantile-onset SMA (GARS1-iSMA) to GARS1 adolescent- or early adult-onset hereditary motor/sensory neuropathy (GARS1-HMSN). GARS1-iSMA. Age of onset ranges from the neonatal period to the toddler years. Initial manifestations are typically respiratory distress, poor feeding, and muscle weakness (distal greater than proximal). Weakness is slowly progressive, ultimately requiring mechanical ventilation and feeding via gastrostomy tube. GARS1-HMSN. Age of onset is most commonly during the second decade (range eight to 36 years). Initial manifestations are typically muscle weakness in the hands sometimes with sensory deficits. Lower limb involvement (seen in ~50% of individuals) ranges from weakness and atrophy of the extensor digitorum brevis and weakness of toe dorsiflexors to classic peroneal muscular atrophy with foot drop and a high steppage gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/316946">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318838"><div><strong>Neuronopathy, distal hereditary motor, type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-5 (HMND5), also known as distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A), is a neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by Christodoulou et al., 1995 and Dubourg et al., 2006). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318838">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342534"><div><strong>Nemaline myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342534</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). Genetic Heterogeneity of Nemaline Myopathy See also NEM1 (255310), caused by mutation in the tropomyosin-3 gene (TPM3; 191030) on chromosome 1q21; NEM3 (161800), caused by mutation in the alpha-actin-1 gene (ACTA1; 102610) on chromosome 1q42; NEM4 (609285), caused by mutation in the beta-tropomyosin gene (TPM2; 190990) on chromosome 9p13; NEM5A (605355), also known as Amish nemaline myopathy, NEM5B (620386), and NEM5C (620389), all caused by mutation in the troponin T1 gene (TNNT1; 191041) on chromosome 19q13; NEM6 (609273), caused by mutation in the KBTBD13 gene (613727) on chromosome 15q22; NEM7 (610687), caused by mutation in the cofilin-2 gene (CFL2; 601443) on chromosome 14q13; NEM8 (615348), caused by mutation in the KLHL40 gene (615340), on chromosome 3p22; NEM9 (615731), caused by mutation in the KLHL41 gene (607701) on chromosome 2q31; NEM10 (616165), caused by mutation in the LMOD3 gene (616112) on chromosome 3p14; and NEM11 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388073"><div><strong>Hereditary spastic paraplegia 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388073</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism with characteristic brain MRI features that include thinning of the corpus callosum. Onset occurs mainly during infancy or adolescence (range: age 1-31 years) and in rare cases as late as age 60 years. Most affected individuals become wheelchair bound one or two decades after disease onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388073">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_382811"><div><strong>Bone fragility with contractures, arterial rupture, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382811</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BCARD syndrome is an autosomal recessive connective tissue disorder characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness. Affected individuals also exhibit recognizable craniofacial dysmorphisms, and variable skin features have been observed, including reduced palmar creases, soft skin with easy bruising, and blistering. Developmental delay, which is present in most patients, may be attributable to sensory deficits or medical complications (Ewans et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393515"><div><strong>Ehlers-Danlos syndrome, spondylocheirodysplastic type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393515</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ehlers-Danlos syndrome spondylodysplastic type 3 (EDSSPD3) is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features (Giunta et al., 2008). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393515">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436764"><div><strong>Hereditary spastic paraplegia 38</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436764</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419034"><div><strong>Hereditary spastic paraplegia 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419034</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth neuropathy type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17. Features of these disorders include onset of symptoms ranging from the first to the seventh decade, slow disease progression, upper motor neuron involvement (gait disturbance with pyramidal signs ranging from mild to severe spasticity with hyperreflexia in the lower limbs and variable extensor plantar responses), lower motor neuron involvement (amyotrophy of the peroneal muscles and small muscles of the hand), and pes cavus and other foot deformities. Disease severity is variable among and within families.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419034">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501212"><div><strong>Charcot-Marie-Tooth disease type 1E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501212</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3495591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the <i>PMP22</i> (17p12) gene. The disease severity depends on the particular <i>PMP22</i> mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766570"><div><strong>Neuronopathy, distal hereditary motor, type 5B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766570</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-12 (HMND12) is a neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766570">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) 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_1760720"><div><strong>Neuronopathy, distal hereditary motor, type 5C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1760720</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-13 (HMND13) is a neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills. Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder. In addition, some patients with BSCL2 mutations show features of Charcot-Marie-Tooth type 2 (CMT2) with distal sensory impairment. HMND13, Silver syndrome (SPG17), and features of axonal sensorimotor peripheral neuropathy (CMT2) thus represent a phenotypic spectrum associated with heterozygous mutations in the BSCL2 gene. Individuals with the same mutation may manifest features consistent with any of those disorders; variability is even observed within the same family (summary by Van de Warrenburg et al., 2006; Luigetti et al., 2010; Choi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMND1 (182960).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1760720">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1725962"><div><strong>Carpal tunnel syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1725962</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carpal tunnel syndrome-2 (CTS2) is characterized by the relatively early onset of symptoms of median nerve compression in the wrist. Patients experience pain and numbness in the thumb, index, and middle fingers, correlating with the median nerve distribution in the hand. In addition to thickening of the tendons and ligaments of the wrist, thickening of other tendons has been observed (Li et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of carpal tunnel syndrome, see CTS1 (115430).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1725962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794143"><div><strong>Charcot-Marie-Tooth Disease, axonal, type 2GG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794143</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561933</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 2GG (CMT2GG) is an autosomal dominant axonal peripheral neuropathy characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. The onset is usually in adulthood, although rare patients may have mild symptoms from childhood. Some individuals may also have involvement of the hands. Although most patients have hypo- or areflexia at the ankles, distal sensory impairment is not always present, indicating a spectrum of disease encompassing both distal hereditary neuropathy and axonal CMT. Electrophysiologic studies are consistent with a axonal process (summary by Mendoza-Ferreira et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794143">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809728"><div><strong>Peripheral motor neuropathy, childhood-onset, biotin-responsive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809728</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676997</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset biotin-responsive peripheral motor neuropathy (COMNB) is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Some patients may have lower limb involvement, resulting in gait difficulties. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Rare patients may have additional neurologic signs, including spasticity, ataxia, and cerebellar signs. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement (Holling et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824022"><div><strong>Charcot-Marie-Tooth disease, demyelinating, type 1J</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824022</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774249</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 1J (CMT1J) is an autosomal dominant sensorimotor peripheral neuropathy characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities. The age at onset is highly variable, ranging from early childhood to mid-adulthood, and the disorder is progressive, although the severity is also variable. Additional features may include foot deformities, upper limb or hand involvement, and decreased or absent deep tendon reflexes. Electrophysiologic studies tend to show nerve conduction velocities in the demyelinating range, although some patients may have results in the intermediate range, likely reflecting secondary axonal degeneration (summary by Ronkko et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824022">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847194"><div><strong>Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847194</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF) is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. The phenotype and severity of the disorder is heterogeneous, ranging from borderline to severe. Brain imaging is usually normal. More variable additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet (Jia et al., 2022).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1847194">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone fragility with contractures, arterial rupture, and deafness</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1725962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carpal tunnel syndrome 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501212" 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 1E</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316946" 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 2D</a></div>
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<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 (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794143" 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 2GG</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease, demyelinating, type 1J</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, spondylocheirodysplastic type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 11</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 17</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 38</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_88566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-I-H/S</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 5B</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1760720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 5C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral motor neuropathy, childhood-onset, biotin-responsive</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/33714936">A Screening Method Using Anomaly Detection on a Smartphone for Patients With Carpal Tunnel Syndrome: Diagnostic Case-Control Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koyama T,
|
||
Sato S,
|
||
Toriumi M,
|
||
Watanabe T,
|
||
Nimura A,
|
||
Okawa A,
|
||
Sugiura Y,
|
||
Fujita K</span><br />
|
||
<span class="medgenPMjournal">JMIR Mhealth Uhealth</span>
|
||
2021 Mar 14;9(3):e26320.
|
||
doi: 10.2196/26320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33714936" target="_blank">33714936</a><a href="/pmc/articles/PMC8005991" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31586365">A Tablet-Based App for Carpal Tunnel Syndrome Screening: Diagnostic Case-Control Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujita K,
|
||
Watanabe T,
|
||
Kuroiwa T,
|
||
Sasaki T,
|
||
Nimura A,
|
||
Sugiura Y</span><br />
|
||
<span class="medgenPMjournal">JMIR Mhealth Uhealth</span>
|
||
2019 Sep 13;7(9):e14172.
|
||
doi: 10.2196/14172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31586365" target="_blank">31586365</a><a href="/pmc/articles/PMC6779028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22thenar%20muscle%20atrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</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/37629694">Delayed Surgical Treatment in Patients with Chronic Carpal Tunnel Syndrome Is Still Effective in the Improvement of Hand Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Twardowska M,
|
||
Czarnecki P,
|
||
Jokiel M,
|
||
Bręborowicz E,
|
||
Huber J,
|
||
Romanowski L</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2023 Jul 31;59(8)
|
||
doi: 10.3390/medicina59081404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37629694" target="_blank">37629694</a><a href="/pmc/articles/PMC10456912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35023866">General Anxiety Is Associated with Problematic Initial Recovery After Carpal Tunnel Release.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryan C,
|
||
Miner H,
|
||
Ramachandran S,
|
||
Ring D,
|
||
Fatehi A</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2022 Aug 1;480(8):1576-1581.
|
||
Epub 2022 Jan 13
|
||
doi: 10.1097/CORR.0000000000002115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35023866" target="_blank">35023866</a><a href="/pmc/articles/PMC9278949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31780367">Differences in characteristics of carpal tunnel syndrome between male and female patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitake T,
|
||
Iwatsuki K,
|
||
Hirata H</span><br />
|
||
<span class="medgenPMjournal">J Orthop Sci</span>
|
||
2020 Sep;25(5):843-846.
|
||
Epub 2019 Nov 25
|
||
doi: 10.1016/j.jos.2019.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31780367" target="_blank">31780367</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31586365">A Tablet-Based App for Carpal Tunnel Syndrome Screening: Diagnostic Case-Control Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujita K,
|
||
Watanabe T,
|
||
Kuroiwa T,
|
||
Sasaki T,
|
||
Nimura A,
|
||
Sugiura Y</span><br />
|
||
<span class="medgenPMjournal">JMIR Mhealth Uhealth</span>
|
||
2019 Sep 13;7(9):e14172.
|
||
doi: 10.2196/14172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31586365" target="_blank">31586365</a><a href="/pmc/articles/PMC6779028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26644083">Multiple etiologies of trigger wrist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park IJ,
|
||
Lee YM,
|
||
Kim HM,
|
||
Lee JY,
|
||
Roh YT,
|
||
Park CK,
|
||
Kang SH</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2016 Mar;69(3):335-40.
|
||
Epub 2015 Oct 30
|
||
doi: 10.1016/j.bjps.2015.10.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26644083" target="_blank">26644083</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thenar%20muscle%20atrophy%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 (17)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37914990">Concurrent fabry disease and immunoglobulin a nephropathy: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou LN,
|
||
Dong SS,
|
||
Zhang SZ,
|
||
Huang LW,
|
||
Huang W</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2023 Nov 1;24(1):324.
|
||
doi: 10.1186/s12882-023-03282-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37914990" target="_blank">37914990</a><a href="/pmc/articles/PMC10621085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35023866">General Anxiety Is Associated with Problematic Initial Recovery After Carpal Tunnel Release.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryan C,
|
||
Miner H,
|
||
Ramachandran S,
|
||
Ring D,
|
||
Fatehi A</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2022 Aug 1;480(8):1576-1581.
|
||
Epub 2022 Jan 13
|
||
doi: 10.1097/CORR.0000000000002115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35023866" target="_blank">35023866</a><a href="/pmc/articles/PMC9278949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31586365">A Tablet-Based App for Carpal Tunnel Syndrome Screening: Diagnostic Case-Control Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujita K,
|
||
Watanabe T,
|
||
Kuroiwa T,
|
||
Sasaki T,
|
||
Nimura A,
|
||
Sugiura Y</span><br />
|
||
<span class="medgenPMjournal">JMIR Mhealth Uhealth</span>
|
||
2019 Sep 13;7(9):e14172.
|
||
doi: 10.2196/14172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31586365" target="_blank">31586365</a><a href="/pmc/articles/PMC6779028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26644083">Multiple etiologies of trigger wrist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park IJ,
|
||
Lee YM,
|
||
Kim HM,
|
||
Lee JY,
|
||
Roh YT,
|
||
Park CK,
|
||
Kang SH</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2016 Mar;69(3):335-40.
|
||
Epub 2015 Oct 30
|
||
doi: 10.1016/j.bjps.2015.10.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26644083" target="_blank">26644083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24156588">Carpal tunnel syndrome in patient with hemihypertrophy: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimoe T,
|
||
Taniguchi Y,
|
||
Yoshida M</span><br />
|
||
<span class="medgenPMjournal">Hand Surg</span>
|
||
2013;18(3):411-2.
|
||
doi: 10.1142/S021881041372026X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24156588" target="_blank">24156588</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thenar%20muscle%20atrophy%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37189245">Does Revision Carpal Tunnel Release Result in Long-Term Outcomes Equivalent to Single Carpal Tunnel Release? A Matched Case-Control Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westenberg RF,
|
||
DiGiovanni PL,
|
||
Schep NWL,
|
||
Eberlin KR,
|
||
Chen NC,
|
||
Coert JH</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2024 Apr 1;153(4):746e-757e.
|
||
Epub 2023 May 16
|
||
doi: 10.1097/PRS.0000000000010682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37189245" target="_blank">37189245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37016767">Anti-cancer therapeutic agents and carpal tunnel syndrome: Clinical, electrodiagnostic, and ultrasound findings in seven patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shields LB,
|
||
Iyer VG,
|
||
Zhang YP,
|
||
Shields CB</span><br />
|
||
<span class="medgenPMjournal">J Oncol Pharm Pract</span>
|
||
2024 Jan;30(1):38-45.
|
||
Epub 2023 Apr 4
|
||
doi: 10.1177/10781552231167559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37016767" target="_blank">37016767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20409331">Local steroid injection for moderately severe idiopathic carpal tunnel syndrome: protocol of a randomized double-blind placebo-controlled trial (NCT 00806871).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flondell M,
|
||
Hofer M,
|
||
Björk J,
|
||
Atroshi I</span><br />
|
||
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
|
||
2010 Apr 21;11:76.
|
||
doi: 10.1186/1471-2474-11-76.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20409331" target="_blank">20409331</a><a href="/pmc/articles/PMC2868793" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19590482">Acupuncture in patients with carpal tunnel syndrome: A randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang CP,
|
||
Hsieh CL,
|
||
Wang NH,
|
||
Li TC,
|
||
Hwang KL,
|
||
Yu SC,
|
||
Chang MH</span><br />
|
||
<span class="medgenPMjournal">Clin J Pain</span>
|
||
2009 May;25(4):327-33.
|
||
doi: 10.1097/AJP.0b013e318190511c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19590482" target="_blank">19590482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10913216">The effects of hypothyroidism and thyroid replacement on the development of carpal tunnel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palumbo CF,
|
||
Szabo RM,
|
||
Olmsted SL</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2000 Jul;25(4):734-9.
|
||
doi: 10.1053/jhsu.2000.8642.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10913216" target="_blank">10913216</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thenar%20muscle%20atrophy%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35536769">Reawakening Neuritis of the Median Nerve after Carpal Tunnel Release: Defining and Predicting Patients at Risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts JM,
|
||
Muller JN,
|
||
Hancock PC,
|
||
Loloi J,
|
||
Hollenbeak CS,
|
||
Taylor KF</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2022 Jul 1;150(1):118-123.
|
||
Epub 2022 May 10
|
||
doi: 10.1097/PRS.0000000000009183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35536769" target="_blank">35536769</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26644083">Multiple etiologies of trigger wrist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park IJ,
|
||
Lee YM,
|
||
Kim HM,
|
||
Lee JY,
|
||
Roh YT,
|
||
Park CK,
|
||
Kang SH</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2016 Mar;69(3):335-40.
|
||
Epub 2015 Oct 30
|
||
doi: 10.1016/j.bjps.2015.10.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26644083" target="_blank">26644083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25183596">Carpal tunnel decompression in the super-elderly: functional outcome and patient satisfaction are equal to those of their younger counterparts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stone OD,
|
||
Clement ND,
|
||
Duckworth AD,
|
||
Jenkins PJ,
|
||
Annan JD,
|
||
McEachan JE</span><br />
|
||
<span class="medgenPMjournal">Bone Joint J</span>
|
||
2014 Sep;96-B(9):1234-8.
|
||
doi: 10.1302/0301-620X.96B9.34279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25183596" target="_blank">25183596</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20427406">Clinical outcome of carpal tunnel release with and without opposition transfer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uemura T,
|
||
Hidaka N,
|
||
Nakamura H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2010 Oct;35(8):632-6.
|
||
Epub 2010 Apr 28
|
||
doi: 10.1177/1753193410369988.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20427406" target="_blank">20427406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15656907">Randomized clinical trial of surgery versus conservative therapy for carpal tunnel syndrome [ISRCTN84286481].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin BI,
|
||
Levenson LM,
|
||
Hollingworth W,
|
||
Kliot M,
|
||
Heagerty PJ,
|
||
Turner JA,
|
||
Jarvik JG</span><br />
|
||
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
|
||
2005 Jan 18;6:2.
|
||
doi: 10.1186/1471-2474-6-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15656907" target="_blank">15656907</a><a href="/pmc/articles/PMC546190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thenar%20muscle%20atrophy%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37016767">Anti-cancer therapeutic agents and carpal tunnel syndrome: Clinical, electrodiagnostic, and ultrasound findings in seven patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shields LB,
|
||
Iyer VG,
|
||
Zhang YP,
|
||
Shields CB</span><br />
|
||
<span class="medgenPMjournal">J Oncol Pharm Pract</span>
|
||
2024 Jan;30(1):38-45.
|
||
Epub 2023 Apr 4
|
||
doi: 10.1177/10781552231167559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37016767" target="_blank">37016767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37914990">Concurrent fabry disease and immunoglobulin a nephropathy: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou LN,
|
||
Dong SS,
|
||
Zhang SZ,
|
||
Huang LW,
|
||
Huang W</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2023 Nov 1;24(1):324.
|
||
doi: 10.1186/s12882-023-03282-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37914990" target="_blank">37914990</a><a href="/pmc/articles/PMC10621085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/37629694">Delayed Surgical Treatment in Patients with Chronic Carpal Tunnel Syndrome Is Still Effective in the Improvement of Hand Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Twardowska M,
|
||
Czarnecki P,
|
||
Jokiel M,
|
||
Bręborowicz E,
|
||
Huber J,
|
||
Romanowski L</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2023 Jul 31;59(8)
|
||
doi: 10.3390/medicina59081404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37629694" target="_blank">37629694</a><a href="/pmc/articles/PMC10456912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/35023866">General Anxiety Is Associated with Problematic Initial Recovery After Carpal Tunnel Release.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryan C,
|
||
Miner H,
|
||
Ramachandran S,
|
||
Ring D,
|
||
Fatehi A</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2022 Aug 1;480(8):1576-1581.
|
||
Epub 2022 Jan 13
|
||
doi: 10.1097/CORR.0000000000002115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35023866" target="_blank">35023866</a><a href="/pmc/articles/PMC9278949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34670436">Opponensplasty using the extensor indicis proprius tendon for severe carpal tunnel syndrome in 40 patients.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Matsuki H,
|
||
Nakatsuchi Y,
|
||
Momose T</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2022 Apr;47(4):353-358.
|
||
Epub 2021 Oct 20
|
||
doi: 10.1177/17531934211045957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34670436" target="_blank">34670436</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thenar%20muscle%20atrophy%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 (13)</a></div></div>
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