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Upper limb dysmetria

MedGen UID:
482338
Concept ID:
C3280708
Finding
HPO: HP:0020036

Definition

A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUpper limb dysmetria

Conditions with this feature

Hereditary spastic paraplegia 46
MedGen UID:
473687
Concept ID:
C2828721
Disease or Syndrome
Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).

Professional guidelines

PubMed

Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG
Neurogenetics 2012 Feb;13(1):31-47. Epub 2012 Jan 5 doi: 10.1007/s10048-011-0306-5. PMID: 22218741
Hooper J, Taylor R, Pentland B, Whittle IR
Br J Neurosurg 2002 Apr;16(2):102-9. doi: 10.1080/02688690220131769. PMID: 12046727
Livingstone IR, Mastaglia FL, Pennington RJ, Skilbeck C
J Neurol Sci 1981 May;50(2):161-74. doi: 10.1016/0022-510x(81)90162-3. PMID: 7229661

Recent clinical studies

Etiology

De Michele G, Filla A, Cavalcanti F, Tammaro A, Monticelli A, Pianese L, Di Salle F, Perreti A, Santoro L, Caruso G, Cocozza S
Neurology 2000 Jan 25;54(2):496-9. doi: 10.1212/wnl.54.2.496. PMID: 10668723

Diagnosis

Elarjani T, Altewerki M, Alsuwaidan A, Alhuthayl M, Hassounah M
World Neurosurg 2021 Jan;145:290-294. Epub 2020 Sep 30 doi: 10.1016/j.wneu.2020.09.135. PMID: 33010513
Kim JM, Shin S, Kim JY, Joo SI, Park SS, Kim JW, Jeon BS
J Korean Med Sci 1999 Dec;14(6):659-64. doi: 10.3346/jkms.1999.14.6.659. PMID: 10642945Free PMC Article

Therapy

Elarjani T, Altewerki M, Alsuwaidan A, Alhuthayl M, Hassounah M
World Neurosurg 2021 Jan;145:290-294. Epub 2020 Sep 30 doi: 10.1016/j.wneu.2020.09.135. PMID: 33010513

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