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Anarthria

MedGen UID:
68604
Concept ID:
C0234517
Disease or Syndrome
Synonyms: Jumbled speech; Loss of articulate speech
SNOMED CT: Anarthria (48257004); Jumbled speech (48257004)
 
HPO: HP:0002425

Definition

A defect in the motor ability that enables speech. [from HPO]

Conditions with this feature

Kufor-Rakeb syndrome
MedGen UID:
338281
Concept ID:
C1847640
Disease or Syndrome
Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).
Neuroferritinopathy
MedGen UID:
381211
Concept ID:
C1853578
Disease or Syndrome
Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.
Amyotrophic lateral sclerosis type 2, juvenile
MedGen UID:
349246
Concept ID:
C1859807
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.
Infantile-onset ascending hereditary spastic paralysis
MedGen UID:
419413
Concept ID:
C2931441
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.

Professional guidelines

PubMed

Cerami C, Dodich A, Greco L, Iannaccone S, Magnani G, Marcone A, Pelagallo E, Santangelo R, Cappa SF, Perani D
J Alzheimers Dis 2017;55(1):183-197. doi: 10.3233/JAD-160682. PMID: 27662315Free PMC Article
Cersosimo MG, Raina GB, Piedimonte F, Antico J, Graff P, Micheli FE
Clin Neurol Neurosurg 2008 Feb;110(2):145-50. Epub 2007 Nov 26 doi: 10.1016/j.clineuro.2007.10.003. PMID: 18023526

Recent clinical studies

Etiology

Espeche A, Galicchio S, Cersósimo R, Chacon S, Gamboni B, Adi J, Fasulo L, Semprino M, Fortini S, Cachia P, Caraballo RH
Epilepsy Behav 2021 Apr;117:107885. Epub 2021 Mar 11 doi: 10.1016/j.yebeh.2021.107885. PMID: 33714932
Braden RO, Boyce JO, Stutterd CA, Pope K, Goel H, Leventer RJ, Scheffer IE, Morgan AT
Neurology 2021 Apr 6;96(14):e1898-e1912. Epub 2021 Feb 15 doi: 10.1212/WNL.0000000000011698. PMID: 33589534
McFadd ED, Hustad KC
J Speech Lang Hear Res 2020 Jun 22;63(6):1776-1792. Epub 2020 May 27 doi: 10.1044/2020_JSLHR-19-00228. PMID: 32459163Free PMC Article
Molinaro M, Broman AT, Rathouz PJ, Hustad KC
Dev Neurorehabil 2020 Jul;23(5):285-293. Epub 2019 Jul 29 doi: 10.1080/17518423.2019.1646829. PMID: 31352864Free PMC Article
Ganos C, Crowe B, Stamelou M, Kresojević N, Lukić MJ, Bras J, Guerreiro R, Taiwo F, Balint B, Batla A, Schneider SA, Erro R, Svetel M, Kostić V, Kurian MA, Bhatia KP
Parkinsonism Relat Disord 2016 Mar;24:20-7. Epub 2016 Jan 28 doi: 10.1016/j.parkreldis.2016.01.022. PMID: 26924602

Diagnosis

Rampello L, Rampello L, Patti F, Zappia M
J Neurol Sci 2016 Oct 15;369:354-360. Epub 2016 Aug 24 doi: 10.1016/j.jns.2016.08.048. PMID: 27653923
Ganos C, Crowe B, Stamelou M, Kresojević N, Lukić MJ, Bras J, Guerreiro R, Taiwo F, Balint B, Batla A, Schneider SA, Erro R, Svetel M, Kostić V, Kurian MA, Bhatia KP
Parkinsonism Relat Disord 2016 Mar;24:20-7. Epub 2016 Jan 28 doi: 10.1016/j.parkreldis.2016.01.022. PMID: 26924602
Ann MY, Liu OK, Wu YL
Zhonghua Yi Xue Za Zhi (Taipei) 2001 Sep;64(9):540-4. PMID: 11768286
Pasquier F, Delacourte A
Curr Opin Neurol 1998 Oct;11(5):417-27. doi: 10.1097/00019052-199810000-00002. PMID: 9847989
Sepcić J, Sepić-Grahovac D, Strenja-Grubesić J, Antonelli L, Andrasević D
Neurol Croat 1992;41(3):157-61. PMID: 1463800

Therapy

Schowalter S, Katz DI, Lin DJ
Neurology 2021 Jan 19;96(3):128-133. Epub 2020 Sep 10 doi: 10.1212/WNL.0000000000010809. PMID: 32913028
Muñoz-Lopetegi A, Fernández García de Eulate G, Rodríguez-Antigüedad Muñoz J, Bergareche A, José Poza J
Epileptic Disord 2018 Jun 1;20(3):189-194. doi: 10.1684/epd.2018.0973. PMID: 29905156
Pandarinath C, Nuyujukian P, Blabe CH, Sorice BL, Saab J, Willett FR, Hochberg LR, Shenoy KV, Henderson JM
Elife 2017 Feb 21;6 doi: 10.7554/eLife.18554. PMID: 28220753Free PMC Article
Körner S, Sieniawski M, Kollewe K, Rath KJ, Krampfl K, Zapf A, Dengler R, Petri S
Amyotroph Lateral Scler Frontotemporal Degener 2013 Jan;14(1):20-5. Epub 2012 Aug 7 doi: 10.3109/17482968.2012.692382. PMID: 22871079
Meijer JW, van Kuijk AA, Geurts AC, Schelhaas HJ, Zwarts MJ
Am J Phys Med Rehabil 2008 Apr;87(4):321-4. doi: 10.1097/PHM.0b013e318164a931. PMID: 18303472

Prognosis

Giorelli M, Liuzzi D, Aniello MS
Neurol Sci 2024 Jan;45(1):373-374. Epub 2023 Sep 30 doi: 10.1007/s10072-023-07097-w. PMID: 37775617
Moses DA, Metzger SL, Liu JR, Anumanchipalli GK, Makin JG, Sun PF, Chartier J, Dougherty ME, Liu PM, Abrams GM, Tu-Chan A, Ganguly K, Chang EF
N Engl J Med 2021 Jul 15;385(3):217-227. doi: 10.1056/NEJMoa2027540. PMID: 34260835Free PMC Article
Zappa G, LoMauro A, Baranello G, Cavallo E, Corti P, Mastella C, Costantino MA
J Neurodev Disord 2021 Feb 2;13(1):9. doi: 10.1186/s11689-021-09355-4. PMID: 33530934Free PMC Article
Baumann H, Tunc S, Günther A, Münchau A, Lohmann K, Brüggemann N
Parkinsonism Relat Disord 2020 Nov;80:41-46. Epub 2020 Sep 11 doi: 10.1016/j.parkreldis.2020.09.012. PMID: 32949958
León-Carrión J, Van Eeckhout P, Domínguez-Morales MR
Acta Neurochir Suppl 2005;93:213-5. doi: 10.1007/3-211-27577-0_39. PMID: 15986759

Clinical prediction guides

Espeche A, Galicchio S, Cersósimo R, Chacon S, Gamboni B, Adi J, Fasulo L, Semprino M, Fortini S, Cachia P, Caraballo RH
Epilepsy Behav 2021 Apr;117:107885. Epub 2021 Mar 11 doi: 10.1016/j.yebeh.2021.107885. PMID: 33714932
Zappa G, LoMauro A, Baranello G, Cavallo E, Corti P, Mastella C, Costantino MA
J Neurodev Disord 2021 Feb 2;13(1):9. doi: 10.1186/s11689-021-09355-4. PMID: 33530934Free PMC Article
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L
Am J Med Genet A 2020 Oct;182(10):2207-2213. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61795. PMID: 33001581
Molinaro M, Broman AT, Rathouz PJ, Hustad KC
Dev Neurorehabil 2020 Jul;23(5):285-293. Epub 2019 Jul 29 doi: 10.1080/17518423.2019.1646829. PMID: 31352864Free PMC Article
Sepcić J, Sepić-Grahovac D, Strenja-Grubesić J, Antonelli L, Andrasević D
Neurol Croat 1992;41(3):157-61. PMID: 1463800

Recent systematic reviews

Geytenbeek J, Harlaar L, Stam M, Ket H, Becher JG, Oostrom K, Vermeulen J
Dev Med Child Neurol 2010 Dec;52(12):1098. doi: 10.1111/j.1469-8749.2010.03833.x. PMID: 21175466
Geytenbeek J, Harlaar L, Stam M, Ket H, Becher JG, Oostrom K, Vermeulen J
Dev Med Child Neurol 2010 Dec;52(12):e267-77. Epub 2010 Oct 11 doi: 10.1111/j.1469-8749.2010.03807.x. PMID: 21039440

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