U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal muscle tone

MedGen UID:
488941
Concept ID:
C0852413
Finding; Sign or Symptom
Synonym: Abnormal muscles tone
 
HPO: HP:0003808

Conditions with this feature

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
MedGen UID:
381530
Concept ID:
C1854988
Disease or Syndrome
Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal period and early infancy (termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). Individuals with early-onset MoCD typically present in the first days of life with severe encephalopathy, including refractory seizures, opisthotonos, axial and appendicular hypotonia, feeding difficulties, and apnea. Head imaging may demonstrate loss of gray and white matter differentiation, gyral swelling, sulci injury (typically assessed by evaluating the depth of focal lesional injury within the sulci), diffusely elevated T2-weighted signal, and panlobar diffusion restriction throughout the forebrain and midbrain with relative sparring of the brain stem. Prognosis for early-onset MoCD is poor, with about 75% succumbing in infancy to secondary complications of their neurologic disability (i.e., pneumonia). Late-onset MoCD is typically characterized by milder symptoms, such as acute neurologic decompensation in the setting of infection. Episodes vary in nature but commonly consist of altered mental status, dystonia, choreoathetosis, ataxia, nystagmus, and fluctuating hypotonia and hypertonia. These features may improve after resolution of the inciting infection or progress in a gradual or stochastic manner over the lifetime. Brain imaging may be normal or may demonstrate T2-weighted hyperintense or cystic lesions in the globus pallidus, thinning of the corpus callosum, and cerebellar atrophy.

Professional guidelines

PubMed

Yuanjie Y, Jianyi X, Jinyan X, Mao H, Siyang Y, Zhenjin Y
Behav Neurol 2023;2023:4662788. Epub 2023 Mar 21 doi: 10.1155/2023/4662788. PMID: 37252107Free PMC Article
Adamczyk M, Kornacki J, Wirstlein P, Szczepanska M, Wender-Ozegowska E
Ginekol Pol 2019;90(2):93-99. doi: 10.5603/GP.2019.0016. PMID: 30860276
Deon LL, Gaebler-Spira D
Orthop Clin North Am 2010 Oct;41(4):507-17. doi: 10.1016/j.ocl.2010.06.001. PMID: 20868881

Recent clinical studies

Therapy

Yuanjie Y, Jianyi X, Jinyan X, Mao H, Siyang Y, Zhenjin Y
Behav Neurol 2023;2023:4662788. Epub 2023 Mar 21 doi: 10.1155/2023/4662788. PMID: 37252107Free PMC Article
Deon LL, Gaebler-Spira D
Orthop Clin North Am 2010 Oct;41(4):507-17. doi: 10.1016/j.ocl.2010.06.001. PMID: 20868881
Ozcakir S, Sivrioglu K
Clin Med Res 2007 Jun;5(2):132-8. doi: 10.3121/cmr.2007.716. PMID: 17607049Free PMC Article
Seymour JF
Drug Saf 1993 Jan;8(1):81-8. doi: 10.2165/00002018-199308010-00010. PMID: 8471190
Langan TJ, Pueschel SM
Curr Probl Pediatr 1983 Jan;13(3):1-30. doi: 10.1016/0045-9380(83)90016-6. PMID: 6301756

Prognosis

Kay A, Lukhele B, Dlamini S, Seeger A, Dlamini P, Ndabezitha S, Mthethwa N, Steffy T, Komba L, Amuge P, Ketangenyi E, Elyanu P, Munthali A, Msekandiana A, Maldonado Y, Chiao E, Kekitiinwa A, Thahane L, Mwita L, Kirchner HL, Mandalakas AM
Lancet Glob Health 2024 Jun;12(6):e929-e937. doi: 10.1016/S2214-109X(24)00091-3. PMID: 38762295Free PMC Article
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K
Nat Commun 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8. PMID: 35121750Free PMC Article
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK
Pediatr Neurol 2017 May;70:20-25. Epub 2017 Feb 7 doi: 10.1016/j.pediatrneurol.2017.01.032. PMID: 28347601Free PMC Article
Okumura A, Kidokoro H, Shoji H, Nakazawa T, Mimaki M, Fujii K, Oba H, Shimizu T
Pediatrics 2009 Jun;123(6):e1052-8. Epub 2009 May 11 doi: 10.1542/peds.2008-2791. PMID: 19433515
Seymour JF
Drug Saf 1993 Jan;8(1):81-8. doi: 10.2165/00002018-199308010-00010. PMID: 8471190

Clinical prediction guides

Yuanjie Y, Jianyi X, Jinyan X, Mao H, Siyang Y, Zhenjin Y
Behav Neurol 2023;2023:4662788. Epub 2023 Mar 21 doi: 10.1155/2023/4662788. PMID: 37252107Free PMC Article
Stȩpień A, Maślanko K, Rekowski W, Fabian K, Tuz J, Graff K
J Back Musculoskelet Rehabil 2022;35(5):1003-1011. doi: 10.3233/BMR-171075. PMID: 35431225
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K
Nat Commun 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8. PMID: 35121750Free PMC Article
Peter B, Matsushita M, Oda K, Raskind W
Am J Med Genet A 2014 Aug;164A(8):2091-6. Epub 2014 May 8 doi: 10.1002/ajmg.a.36599. PMID: 24810580
Okumura A, Kidokoro H, Shoji H, Nakazawa T, Mimaki M, Fujii K, Oba H, Shimizu T
Pediatrics 2009 Jun;123(6):e1052-8. Epub 2009 May 11 doi: 10.1542/peds.2008-2791. PMID: 19433515

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...