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118 KiB
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<!--
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UID=107445
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ConceptID=C0542223
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Loss of speech</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107445</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.">C0542223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002371">HP:0002371</a></td></tr>
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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">Loss of speech</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/1052794" ref="tree=MeSH" title="MedGen record for Abnormal cognitive process">Abnormal cognitive process</a></span><ul><li><span class="TLline"><a href="/medgen/1842075" ref="tree=MeSH" title="MedGen record for Abnormal communication">Abnormal communication</a></span><ul><li><span class="TLline"><a href="/medgen/1841539" ref="tree=MeSH" title="MedGen record for Abnormal language feature">Abnormal language feature</a></span><ul><li><span class="TLline"><a href="/medgen/1853271" ref="tree=MeSH" title="MedGen record for Abnormal speech pattern">Abnormal speech pattern</a></span><ul><li><span class="matched_ds">Loss of speech</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_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_6071"><div><strong>Metachromatic leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6071</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0023522</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile, juvenile, and adult MLD. The age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD: Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. Language, cognitive, and gross and fine motor skills regress as the disease progresses. Later signs include spasticity, pain, seizures, and compromised vision and hearing. In the final stages, children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings. Juvenile MLD: Onset is between age 30 months and 16 years. Initial manifestations include a decline in school performance and the emergence of behavioral problems, followed by gait disturbances. Progression is similar to but slower than in the late-infantile form. Adult MLD: Onset occurs after the age of 16 years, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, emotional lability, or psychosis; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures predominate initially. Peripheral neuropathy is common. The disease course is variable, with periods of stability interspersed with periods of decline, and may extend over two to three decades. The final stage is similar to earlier-onset forms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6071">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39477"><div><strong>Mucopolysaccharidosis, MPS-III-C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39477</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.">C0086649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39477">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_57667"><div><strong>Adrenoleukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57667</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.">C0162309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked adrenoleukodystrophy (X-ALD) involves the central or peripheral nervous system and the adrenal cortex. The nervous system and adrenal glands are involved independently; thus, an affected male may be diagnosed with cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and/or primary adrenocortical insufficiency. CALD is characterized by progressive behavioral, cognitive, and neurologic deficits; onset of symptoms ranges from childhood (typically ages 4 to 8 years) to adolescence (ages 11 to 21 years) and adulthood. AMN is characterized by leg weakness, spasticity, clumsy gait, pain, and bladder and bowel dysfunction; onset is typically in the 20s and 30s. Onset of primary adrenocortical insufficiency ranges from age two years to adulthood (most commonly by age 7.5 years). Heterozygous females are not at increased risk to develop CALD, but are at increased risk to develop AMN and primary adrenocortical insufficiency with increasing age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57667">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120624"><div><strong>Sphingolipid activator protein 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120624</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.">C0268262</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The adult form of metachromatic leukodystrophy affects approximately 15 to 20 percent of individuals with the disorder. In this form, the first symptoms appear during the teenage years or later. Often behavioral problems such as alcohol use disorder, drug abuse, or difficulties at school or work are the first symptoms to appear. The affected individual may experience psychiatric symptoms such as delusions or hallucinations. People with the adult form of metachromatic leukodystrophy may survive for 20 to 30 years after diagnosis. During this time there may be some periods of relative stability and other periods of more rapid decline.\n\nMetachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a microscope. The sulfatides form granules that are described as metachromatic, which means they pick up color differently than surrounding cellular material when stained for examination.\n\nIn 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. In this juvenile form, the first signs of the disorder may be behavioral problems and increasing difficulty with schoolwork. Progression of the disorder is slower than in the late infantile form, and affected individuals may survive for about 20 years after diagnosis.\n\nThe most common form of metachromatic leukodystrophy, affecting about 50 to 60 percent of all individuals with this disorder, is called the late infantile form. This form of the disorder usually appears in the second year of life. Affected children lose any speech they have developed, become weak, and develop problems with walking (gait disturbance). As the disorder worsens, muscle tone generally first decreases, and then increases to the point of rigidity. Individuals with the late infantile form of metachromatic leukodystrophy typically do not survive past childhood.\n\nIn people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk. Affected individuals also develop loss of sensation in the extremities (peripheral neuropathy), incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most often involving the gallbladder.\n\nMetachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78657"><div><strong>Tay-Sachs disease, variant AB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78657</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.">C0268275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78657">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318833"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318833</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.">C1833296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335942"><div><strong>Niemann-Pick disease, type C2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335942</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.">C1843366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335942">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375289"><div><strong>Biotin-responsive basal ganglia disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375289</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.">C1843807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in early infancy, childhood, or adulthood. Early-infantile BTBGD presents before age three months with vomiting, feeding difficulties, encephalopathy, hypotonia, seizures, and respiratory failure. Classic BTBGD presents between ages three and ten years with recurrent subacute encephalopathy manifesting as confusion, seizures, ataxia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia that, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. Adult Wernicke-like encephalopathy BTBGD, described in three individuals to date, presents after age ten years with acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in classic and adult BTBGD; however, most infants with early-infantile BTBGD have a poor outcome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340540"><div><strong>Neuronal ceroid lipofuscinosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340540</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.">C1850451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4 (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q22; CLN6A (601780) and CLN6B (204300), both caused by mutation in the CLN6 gene (606725) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), both caused by mutation in the CLN8 gene (607837) on 8p23; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q21; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11. CLN9 (609055) has not been molecularly characterized. A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_465922"><div><strong>Niemann-Pick disease, type C1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465922</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.">C3179455</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/465922">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482496"><div><strong>Childhood encephalopathy due to thiamine pyrophosphokinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482496</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.">C3280866</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thiamine metabolism dysfunction syndrome-5 (THMD5) is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits (Mayr et al., 2011). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482496">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761287"><div><strong>Aicardi-Goutieres syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761287</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.">C3539013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761287">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863025"><div><strong>Leukoencephalopathy, progressive, with ovarian failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863025</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.">C4014588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">AARS2-related disorder includes two distinct phenotypes, infantile-onset cardiomyopathy and neurodegeneration with or without leukoencephalopathy. AARS2-related infantile-onset cardiomyopathy is characterized by hypertrophic cardiomyopathy, hypotonia, skeletal myopathy, and often lung hypoplasia. Some individuals have nonimmune hydrops and/or seizures. AARS2-related neurodegeneration with or without leukoencephalopathy is characterized by movement disorders, cognitive decline, ovarian failure in females, and psychiatric manifestations. Additional neurologic manifestations (seizures, developmental delay, neuropathy, and/or myopathy) and ocular manifestations can also be present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863025">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863137"><div><strong>Severe neurodegenerative syndrome with lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863137</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.">C4014700</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/863137">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648345"><div><strong>Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648345</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.">C4748127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IRF2BPL-related disorder is characterized by mild-to-profound developmental delay (with regression in many individuals), intellectual disability, seizures (generalized tonic-clonic, myoclonic, absence, focal tonic-clonic, complex partial, infantile spasms, and/or atonic seizures), movement disorder (ataxia, dystonia, tremor, and parkinsonism), spasticity, and neurobehavioral/psychiatric manifestations (autism spectrum disorder, autistic features, anxiety, depression, and psychosis). Feeding issues, gastrointestinal dysmotility, and ophthalmologic manifestations are also reported. Brain MRI can show focal or diffuse cortical and/or subcortical atrophy, cerebellar atrophy (particularly of the vermis), brain stem atrophy, and corpus callosum abnormalities including thinning/atrophy or thickening. Onset is highly variable and can be in the first year of life through the sixth decade. In some individuals the course of the disorder is progressive or debilitating.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648345">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1681210"><div><strong>NAD(P)HX dehydratase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681210</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.">C5193026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, and sometimes seizures, resulting in death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Van Bergen et al., 2019). For a discussion of genetic heterogeneity of PEBEL, see PEBEL1 (617186).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1681210">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_57667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenoleukodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biotin-responsive basal ganglia disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482496" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Childhood encephalopathy due to thiamine pyrophosphokinase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy, progressive, with ovarian failure</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metachromatic leukodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-III-C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">NAD(P)HX dehydratase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_465922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type C1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type C2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe neurodegenerative syndrome with lipodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sphingolipid activator protein 1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tay-Sachs disease, variant AB</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/35665686">Loss of speech and functional impairment in Alzheimer's disease-related primary progressive aphasia: predictive factors of decline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzeo S,
|
||
Polito C,
|
||
Lassi M,
|
||
Bagnoli S,
|
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Mattei M,
|
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Padiglioni S,
|
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Berti V,
|
||
Lombardi G,
|
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Giacomucci G,
|
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De Cristofaro MT,
|
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Passeri A,
|
||
Ferrari C,
|
||
Nacmias B,
|
||
Mazzoni A,
|
||
Sorbi S,
|
||
Bessi V</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2022 Sep;117:59-70.
|
||
Epub 2022 May 13
|
||
doi: 10.1016/j.neurobiolaging.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35665686" target="_blank">35665686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31626855">Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roth JD,
|
||
Pariser JJ,
|
||
Stout TE,
|
||
Misseri R,
|
||
Elliott SP</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2020 Jan;135:165-170.
|
||
Epub 2019 Oct 15
|
||
doi: 10.1016/j.urology.2019.09.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31626855" target="_blank">31626855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622193">Modes of onset of epilepsy and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peter C,
|
||
Camfield C</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:447-53.
|
||
doi: 10.1016/B978-0-444-52891-9.00048-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622193" target="_blank">23622193</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22loss%20of%20speech%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>
|
||
</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/37182889">Advances in the Study of APOE and Innate Immunity in Alzheimer's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Chang J,
|
||
Chen X,
|
||
Liu J,
|
||
Zhao L</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2023;93(4):1195-1210.
|
||
doi: 10.3233/JAD-230179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37182889" target="_blank">37182889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34461295">Akinetic Mutism and Coronavirus Disease 2019: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fusunyan M,
|
||
Praschan N,
|
||
Fricchione G,
|
||
Beach S</span><br />
|
||
<span class="medgenPMjournal">J Acad Consult Liaison Psychiatry</span>
|
||
2021 Nov-Dec;62(6):625-633.
|
||
Epub 2021 Aug 27
|
||
doi: 10.1016/j.jaclp.2021.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34461295" target="_blank">34461295</a><a href="/pmc/articles/PMC8390446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33577706">Speech and language difficulties in Huntington's disease: A qualitative study of patients' and professional caregivers' experiences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimstvedt TN,
|
||
Miller JU,
|
||
van Walsem MR,
|
||
Feragen KJB</span><br />
|
||
<span class="medgenPMjournal">Int J Lang Commun Disord</span>
|
||
2021 Mar;56(2):330-345.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1111/1460-6984.12604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33577706" target="_blank">33577706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28007044">Neurophysiological aspects of brainstem processing of speech stimuli in audiometric-normal geriatric population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ansari MS,
|
||
Rangasayee R,
|
||
Ansari MA</span><br />
|
||
<span class="medgenPMjournal">J Laryngol Otol</span>
|
||
2017 Mar;131(3):239-244.
|
||
Epub 2016 Dec 23
|
||
doi: 10.1017/S0022215116009841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28007044" target="_blank">28007044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9660116">Transient "cerebellar" mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turgut M</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1998 Apr-May;14(4-5):161-6.
|
||
doi: 10.1007/s003810050204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9660116" target="_blank">9660116</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loss%20of%20speech%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 (50)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38481258">De novo variants of IRF2BPL result in developmental epileptic disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Ke Z,
|
||
Li Y,
|
||
Qiu M,
|
||
Liu J,
|
||
Yang Z,
|
||
Wen S,
|
||
Liang M,
|
||
Chen S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Mar 13;19(1):121.
|
||
doi: 10.1186/s13023-024-03130-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38481258" target="_blank">38481258</a><a href="/pmc/articles/PMC10938665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34461295">Akinetic Mutism and Coronavirus Disease 2019: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fusunyan M,
|
||
Praschan N,
|
||
Fricchione G,
|
||
Beach S</span><br />
|
||
<span class="medgenPMjournal">J Acad Consult Liaison Psychiatry</span>
|
||
2021 Nov-Dec;62(6):625-633.
|
||
Epub 2021 Aug 27
|
||
doi: 10.1016/j.jaclp.2021.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34461295" target="_blank">34461295</a><a href="/pmc/articles/PMC8390446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622193">Modes of onset of epilepsy and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peter C,
|
||
Camfield C</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:447-53.
|
||
doi: 10.1016/B978-0-444-52891-9.00048-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622193" target="_blank">23622193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9660116">Transient "cerebellar" mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turgut M</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1998 Apr-May;14(4-5):161-6.
|
||
doi: 10.1007/s003810050204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9660116" target="_blank">9660116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4015467">Muteness of cerebellar origin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rekate HL,
|
||
Grubb RL,
|
||
Aram DM,
|
||
Hahn JF,
|
||
Ratcheson RA</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1985 Jul;42(7):697-8.
|
||
doi: 10.1001/archneur.1985.04060070091023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4015467" target="_blank">4015467</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loss%20of%20speech%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36495645">The mucormycosis and stroke: The learning curve during the second COVID-19 pandemic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramachandran D,
|
||
R A,
|
||
Panicker P,
|
||
S J,
|
||
Sathyabhama MC,
|
||
Nair A,
|
||
Chandran RS,
|
||
George S,
|
||
S C,
|
||
Iype T</span><br />
|
||
<span class="medgenPMjournal">J Stroke Cerebrovasc Dis</span>
|
||
2023 Feb;32(2):106819.
|
||
Epub 2022 Oct 12
|
||
doi: 10.1016/j.jstrokecerebrovasdis.2022.106819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36495645" target="_blank">36495645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33430645">Omaveloxolone: potential new agent for Friedreich ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DR,
|
||
Johnson J</span><br />
|
||
<span class="medgenPMjournal">Neurodegener Dis Manag</span>
|
||
2021 Apr;11(2):91-98.
|
||
Epub 2021 Jan 12
|
||
doi: 10.2217/nmt-2020-0057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33430645" target="_blank">33430645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31626855">Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roth JD,
|
||
Pariser JJ,
|
||
Stout TE,
|
||
Misseri R,
|
||
Elliott SP</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2020 Jan;135:165-170.
|
||
Epub 2019 Oct 15
|
||
doi: 10.1016/j.urology.2019.09.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31626855" target="_blank">31626855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30879475">Amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valko K,
|
||
Ciesla L</span><br />
|
||
<span class="medgenPMjournal">Prog Med Chem</span>
|
||
2019;58:63-117.
|
||
Epub 2019 Mar 8
|
||
doi: 10.1016/bs.pmch.2018.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30879475" target="_blank">30879475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9533994">Effortful echolalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hadano K,
|
||
Nakamura H,
|
||
Hamanaka T</span><br />
|
||
<span class="medgenPMjournal">Cortex</span>
|
||
1998 Feb;34(1):67-82.
|
||
doi: 10.1016/s0010-9452(08)70737-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9533994" target="_blank">9533994</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loss%20of%20speech%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 (35)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39821609">Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morison LD,
|
||
Whiteman IT,
|
||
Vogel AP,
|
||
Tilbrook L,
|
||
Fahey MC,
|
||
Braden R,
|
||
Bredebusch J,
|
||
Hildebrand MS,
|
||
Scheffer IE,
|
||
Morgan AT</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2025 Jan;48(1):e12838.
|
||
doi: 10.1002/jimd.12838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39821609" target="_blank">39821609</a><a href="/pmc/articles/PMC11739554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37099947">Audiological and radiological study of eight polish patients with alpha-mannosidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwanicka-Pronicka K,
|
||
Guzek A,
|
||
Sarnecki J,
|
||
Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2023 Jun;169:111556.
|
||
Epub 2023 Apr 17
|
||
doi: 10.1016/j.ijporl.2023.111556.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37099947" target="_blank">37099947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35665686">Loss of speech and functional impairment in Alzheimer's disease-related primary progressive aphasia: predictive factors of decline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzeo S,
|
||
Polito C,
|
||
Lassi M,
|
||
Bagnoli S,
|
||
Mattei M,
|
||
Padiglioni S,
|
||
Berti V,
|
||
Lombardi G,
|
||
Giacomucci G,
|
||
De Cristofaro MT,
|
||
Passeri A,
|
||
Ferrari C,
|
||
Nacmias B,
|
||
Mazzoni A,
|
||
Sorbi S,
|
||
Bessi V</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2022 Sep;117:59-70.
|
||
Epub 2022 May 13
|
||
doi: 10.1016/j.neurobiolaging.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35665686" target="_blank">35665686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30879475">Amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valko K,
|
||
Ciesla L</span><br />
|
||
<span class="medgenPMjournal">Prog Med Chem</span>
|
||
2019;58:63-117.
|
||
Epub 2019 Mar 8
|
||
doi: 10.1016/bs.pmch.2018.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30879475" target="_blank">30879475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18956241">Regression in autistic spectrum disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanatos GA</span><br />
|
||
<span class="medgenPMjournal">Neuropsychol Rev</span>
|
||
2008 Dec;18(4):305-19.
|
||
Epub 2008 Oct 28
|
||
doi: 10.1007/s11065-008-9073-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18956241" target="_blank">18956241</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loss%20of%20speech%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37099947">Audiological and radiological study of eight polish patients with alpha-mannosidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwanicka-Pronicka K,
|
||
Guzek A,
|
||
Sarnecki J,
|
||
Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2023 Jun;169:111556.
|
||
Epub 2023 Apr 17
|
||
doi: 10.1016/j.ijporl.2023.111556.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37099947" target="_blank">37099947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36495645">The mucormycosis and stroke: The learning curve during the second COVID-19 pandemic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramachandran D,
|
||
R A,
|
||
Panicker P,
|
||
S J,
|
||
Sathyabhama MC,
|
||
Nair A,
|
||
Chandran RS,
|
||
George S,
|
||
S C,
|
||
Iype T</span><br />
|
||
<span class="medgenPMjournal">J Stroke Cerebrovasc Dis</span>
|
||
2023 Feb;32(2):106819.
|
||
Epub 2022 Oct 12
|
||
doi: 10.1016/j.jstrokecerebrovasdis.2022.106819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36495645" target="_blank">36495645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35665686">Loss of speech and functional impairment in Alzheimer's disease-related primary progressive aphasia: predictive factors of decline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzeo S,
|
||
Polito C,
|
||
Lassi M,
|
||
Bagnoli S,
|
||
Mattei M,
|
||
Padiglioni S,
|
||
Berti V,
|
||
Lombardi G,
|
||
Giacomucci G,
|
||
De Cristofaro MT,
|
||
Passeri A,
|
||
Ferrari C,
|
||
Nacmias B,
|
||
Mazzoni A,
|
||
Sorbi S,
|
||
Bessi V</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2022 Sep;117:59-70.
|
||
Epub 2022 May 13
|
||
doi: 10.1016/j.neurobiolaging.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35665686" target="_blank">35665686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33525609">Oral Manifestations of Rett Syndrome-A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahdi SS,
|
||
Jafri HA,
|
||
Allana R,
|
||
Amenta F,
|
||
Khawaja M,
|
||
Qasim SSB</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2021 Jan 28;18(3)
|
||
doi: 10.3390/ijerph18031162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33525609" target="_blank">33525609</a><a href="/pmc/articles/PMC7908587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/30277104">Is there an order of loss of sounds in speakers with Parkinson's disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Read J,
|
||
Miller N,
|
||
Kitsou N</span><br />
|
||
<span class="medgenPMjournal">Clin Linguist Phon</span>
|
||
2018;32(11):997-1011.
|
||
doi: 10.1080/02699206.2018.1504989.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30277104" target="_blank">30277104</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loss%20of%20speech%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 (33)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/33525609">Oral Manifestations of Rett Syndrome-A Systematic Review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mahdi SS,
|
||
Jafri HA,
|
||
Allana R,
|
||
Amenta F,
|
||
Khawaja M,
|
||
Qasim SSB</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2021 Jan 28;18(3)
|
||
doi: 10.3390/ijerph18031162.
|
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<span class="bold">PMID: </span><a href="/pubmed/33525609" target="_blank">33525609</a><a href="/pmc/articles/PMC7908587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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