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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]

Term Hierarchy

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.
Basal ganglia calcification, idiopathic, 9, autosomal recessive
MedGen UID:
1854926
Concept ID:
C5935607
Disease or Syndrome
Autosomal recessive idiopathic basal ganglia calcification-9 (IBGC9) is characterized by a combination of features including ataxia, parkinsonism, headache, and psychiatric and cognitive deficits, with high intrafamilial phenotypic variability and age at onset (Chelban et al., 2024). For a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Braden RO, Boyce JO, Stutterd CA, Pope K, Goel H, Leventer RJ, Scheffer IE, Morgan AT
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Diagnosis

Soe TT, Chattha N, Mahmood A
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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
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An JY, Park SK, Han SR, Song IU
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Pediatr Radiol 1999 Mar;29(3):191-3. doi: 10.1007/s002470050570. PMID: 10201038

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
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
An JY, Park SK, Han SR, Song IU
Intern Med 2010;49(6):615-8. Epub 2010 Mar 15 doi: 10.2169/internalmedicine.49.3069. PMID: 20228603
Söderholm S, Meinander M, Alaranta H
J Rehabil Med 2001 Sep;33(5):235-9. doi: 10.1080/165019701750419644. PMID: 11585156
Lang C, Reichwein J, Iro H, Treig T
Eur Arch Psychiatry Neurol Sci 1989;239(3):188-93. doi: 10.1007/BF01739653. PMID: 2598964

Clinical prediction guides

Diaw SH, Ganos C, Zittel S, Plötze-Martin K, Kulikovskaja L, Vos M, Westenberger A, Rakovic A, Lohmann K, Dulovic-Mahlow M
Int J Mol Sci 2022 Aug 23;23(17) doi: 10.3390/ijms23179524. PMID: 36076926Free PMC Article
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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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