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Hemidystonia

MedGen UID:
743329
Concept ID:
C1960561
Disease or Syndrome
Synonym: hemidystonia
SNOMED CT: Hemidystonia (427232004)
 
HPO: HP:0032005
Monarch Initiative: MONDO:0000487

Definition

Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemidystonia

Conditions with this feature

Torsion dystonia 4
MedGen UID:
342124
Concept ID:
C1851943
Disease or Syndrome
Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013).
Mitochondrial complex 4 deficiency, nuclear type 8
MedGen UID:
1765544
Concept ID:
C5436689
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 8 (MC4DN8) is an autosomal recessive metabolic disorder characterized by the onset of neuromuscular symptoms in the first decade of life after normal early development. Affected individuals develop a slowly progressive decline in neurologic function with gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Other features may include facial hypotonia, optic atrophy with visual impairment, nystagmus, muscle rigidity, and loss of ambulation. Rare patients may have renal tubulopathy. Brain imaging shows T2-weighted hyperintensities in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Serum lactate is often increased, and patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Seeger et al., 2010). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Marbach-Schaaf neurodevelopmental syndrome
MedGen UID:
1794260
Concept ID:
C5562050
Disease or Syndrome
Marbach-Schaaf neurodevelopmental syndrom (MASNS) is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia. More variable features include high pain tolerance, sleep disturbances, and variable nonspecific dysmorphic features (summary by Marbach et al., 2021).

Professional guidelines

PubMed

Barrett MJ, Bressman S
Int Rev Neurobiol 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5. PMID: 21907099
Chuang C, Fahn S, Frucht SJ
J Neurol Neurosurg Psychiatry 2002 Jan;72(1):59-67. doi: 10.1136/jnnp.72.1.59. PMID: 11784827Free PMC Article
Scott BL
South Med J 2000 Aug;93(8):746-51. PMID: 10963502

Recent clinical studies

Etiology

Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Barrett MJ, Bressman S
Int Rev Neurobiol 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5. PMID: 21907099
Wijemanne S, Jankovic J
Mov Disord 2009 Mar 15;24(4):583-9. doi: 10.1002/mds.22415. PMID: 19097182
Blakeley J, Jankovic J
Mov Disord 2002 Jul;17(4):726-34. doi: 10.1002/mds.10178. PMID: 12210862
Fahn S
Can J Neurol Sci 1987 Aug;14(3 Suppl):528-32. doi: 10.1017/s0317167100038051. PMID: 3315156

Diagnosis

Gutti NB, Kalita J, Pandey PC
Intern Med J 2022 Aug;52(8):1429-1433. doi: 10.1111/imj.15874. PMID: 35973954
Smith T, Pugh JA, Vishwanath V
Pediatr Neurol 2019 Nov;100:102-103. Epub 2019 Feb 27 doi: 10.1016/j.pediatrneurol.2019.02.009. PMID: 30922774
Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Blakeley J, Jankovic J
Mov Disord 2002 Jul;17(4):726-34. doi: 10.1002/mds.10178. PMID: 12210862
Chuang C, Fahn S, Frucht SJ
J Neurol Neurosurg Psychiatry 2002 Jan;72(1):59-67. doi: 10.1136/jnnp.72.1.59. PMID: 11784827Free PMC Article

Therapy

Wolff Fernandes F, Saryyeva A, Ertl P, Krauss JK
Childs Nerv Syst 2023 Feb;39(2):557-559. Epub 2022 Oct 12 doi: 10.1007/s00381-022-05698-y. PMID: 36220936Free PMC Article
Gutti NB, Kalita J, Pandey PC
Intern Med J 2022 Aug;52(8):1429-1433. doi: 10.1111/imj.15874. PMID: 35973954
Barrett MJ, Bressman S
Int Rev Neurobiol 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5. PMID: 21907099
Chuang C, Fahn S, Frucht SJ
J Neurol Neurosurg Psychiatry 2002 Jan;72(1):59-67. doi: 10.1136/jnnp.72.1.59. PMID: 11784827Free PMC Article
Fahn S
Can J Neurol Sci 1987 Aug;14(3 Suppl):528-32. doi: 10.1017/s0317167100038051. PMID: 3315156

Prognosis

Abdulbaki A, Jijakli A, Krauss JK
Parkinsonism Relat Disord 2023 Mar;108:105317. Epub 2023 Feb 14 doi: 10.1016/j.parkreldis.2023.105317. PMID: 36813584
Wolff Fernandes F, Saryyeva A, Ertl P, Krauss JK
Childs Nerv Syst 2023 Feb;39(2):557-559. Epub 2022 Oct 12 doi: 10.1007/s00381-022-05698-y. PMID: 36220936Free PMC Article
Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Chuang C, Fahn S, Frucht SJ
J Neurol Neurosurg Psychiatry 2002 Jan;72(1):59-67. doi: 10.1136/jnnp.72.1.59. PMID: 11784827Free PMC Article
Pettigrew LC, Jankovic J
J Neurol Neurosurg Psychiatry 1985 Jul;48(7):650-7. doi: 10.1136/jnnp.48.7.650. PMID: 4031909Free PMC Article

Clinical prediction guides

Doshi PK, Baldia M, Mulroy E, Krauss JK, Bhatia K
Mov Disord Clin Pract 2024 Jan;11(1):30-37. Epub 2023 Dec 6 doi: 10.1002/mdc3.13912. PMID: 38291847Free PMC Article
Abdulbaki A, Jijakli A, Krauss JK
Parkinsonism Relat Disord 2023 Mar;108:105317. Epub 2023 Feb 14 doi: 10.1016/j.parkreldis.2023.105317. PMID: 36813584
Baizabal-Carvallo JF, Jankovic J
J Neurol Sci 2023 Mar 15;446:120577. Epub 2023 Feb 1 doi: 10.1016/j.jns.2023.120577. PMID: 36738494
Lacombe D, Van-Gils J, Lebrun M, Trimouille A, Michaud V, Cabet S, Chateil JF, Pedespan JM, Bar C, Lesca G
Brain Dev 2022 Sep;44(8):567-570. Epub 2022 May 24 doi: 10.1016/j.braindev.2022.05.001. PMID: 35623960
Cunha de Azevedo AR, Contreras López WO, Navarro PA, Gouveia FV, Germann J, Elias GJB, Ruiz Martinez RC, Lopes Alho EJ, Fonoff ET
Neurosurgery 2022 Jul 1;91(1):139-145. Epub 2022 May 16 doi: 10.1227/neu.0000000000001963. PMID: 35550448

Recent systematic reviews

Abdulbaki A, Jijakli A, Krauss JK
Parkinsonism Relat Disord 2023 Mar;108:105317. Epub 2023 Feb 14 doi: 10.1016/j.parkreldis.2023.105317. PMID: 36813584
Guimarães Rocha MS, Letícia de Freitas J, Torres IA, Alves Matos PC, Terzian PR, Santos Tatsch JF, Godinho F
Stereotact Funct Neurosurg 2021;99(5):412-424. Epub 2021 May 6 doi: 10.1159/000515723. PMID: 33957620

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