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EMG: axonal abnormality

MedGen UID:
871138
Concept ID:
C4025609
Pathologic Function
HPO: HP:0003482

Definition

Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • EMG: axonal abnormality

Conditions with this feature

Cholestanol storage disease
MedGen UID:
116041
Concept ID:
C0238052
Disease or Syndrome
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.
Charcot-Marie-Tooth disease X-linked recessive 3
MedGen UID:
375530
Concept ID:
C1844865
Disease or Syndrome
A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the childhood to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paraesthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
Charcot-Marie-Tooth disease X-linked recessive 2
MedGen UID:
336803
Concept ID:
C1844873
Disease or Syndrome
A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.

Professional guidelines

PubMed

Xu L, Wang G, Lv X, Zhang D, Yan C, Lin P
Acta Neurol Belg 2022 Oct;122(5):1305-1312. Epub 2022 Jun 29 doi: 10.1007/s13760-022-02006-y. PMID: 35767146
Manek NJ, Holmgren AR, Sandroni P, Osborn TG, Davis MD
Rheumatol Int 2011 May;31(5):577-85. Epub 2009 Dec 25 doi: 10.1007/s00296-009-1293-9. PMID: 20035332
Jääskeläinen SK
J Orofac Pain 2004 Fall;18(4):355-9. PMID: 15636020

Recent clinical studies

Etiology

Hamel JI, Logigian EL
Neurology 2023 May 16;100(20):e2134-e2140. Epub 2023 Mar 27 doi: 10.1212/WNL.0000000000207215. PMID: 36973043Free PMC Article
Alberti MA, Povedano M, Montero J, Casasnovas C
Neurologia (Engl Ed) 2020 Jan-Feb;35(1):40-45. Epub 2017 Sep 6 doi: 10.1016/j.nrl.2017.05.012. PMID: 28888467
Dyck PJ, Taylor BV, Davies JL, Mauermann ML, Litchy WJ, Klein CJ, Dyck PJ
Muscle Nerve 2015 Oct;52(4):488-97. Epub 2015 Aug 13 doi: 10.1002/mus.24707. PMID: 25976871Free PMC Article
Inghilleri M, Iacovelli E
Arch Ital Biol 2011 Mar;149(1):57-63. doi: 10.4449/aib.v149i1.1264. PMID: 21412716
Finsterer J
Clin Neurol Neurosurg 2005 Apr;107(3):181-6. doi: 10.1016/j.clineuro.2004.07.001. PMID: 15823672

Diagnosis

Lefaucheur JP
Handb Clin Neurol 2019;161:121-148. doi: 10.1016/B978-0-444-64142-7.00045-X. PMID: 31307596
Juel VC
Handb Clin Neurol 2019;160:303-310. doi: 10.1016/B978-0-444-64032-1.00019-9. PMID: 31277856
Kincaid JC
Continuum (Minneap Minn) 2017 Oct;23(5, Peripheral Nerve and Motor Neuron Disorders):1263-1275. doi: 10.1212/CON.0000000000000521. PMID: 28968361
Inghilleri M, Iacovelli E
Arch Ital Biol 2011 Mar;149(1):57-63. doi: 10.4449/aib.v149i1.1264. PMID: 21412716
Johnsen B, Fuglsang-Frederiksen A
Neurophysiol Clin 2000 Dec;30(6):339-51. doi: 10.1016/s0987-7053(00)00237-9. PMID: 11191927

Therapy

Yu M, Qiao Y, Li W, Fang X, Gao H, Zheng D, Ma Y
Brain Behav 2022 Apr;12(4):e2533. Epub 2022 Mar 20 doi: 10.1002/brb3.2533. PMID: 35307992Free PMC Article
Elkhateeb N, Selim R, Soliman NA, Atia FM, Abouelwoun II, Elmonem MA, Helmy R
Pediatr Nephrol 2022 Jul;37(7):1555-1566. Epub 2021 Nov 18 doi: 10.1007/s00467-021-05343-x. PMID: 34791528
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG
Brain 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. PMID: 34114613Free PMC Article
Dyck PJ, Taylor BV, Davies JL, Mauermann ML, Litchy WJ, Klein CJ, Dyck PJ
Muscle Nerve 2015 Oct;52(4):488-97. Epub 2015 Aug 13 doi: 10.1002/mus.24707. PMID: 25976871Free PMC Article
Costa J, Gomes C, de Carvalho M
CNS Neurol Disord Drug Targets 2010 Dec;9(6):764-78. doi: 10.2174/187152710793237502. PMID: 20942786

Prognosis

Hamel JI, Logigian EL
Neurology 2023 May 16;100(20):e2134-e2140. Epub 2023 Mar 27 doi: 10.1212/WNL.0000000000207215. PMID: 36973043Free PMC Article
Al-Zuhairy A, Jakobsen J, Krarup C
Clin Neurophysiol 2021 Apr;132(4):1000-1007. Epub 2021 Jan 19 doi: 10.1016/j.clinph.2020.12.017. PMID: 33581994
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822
Valls-Solé J
Handb Clin Neurol 2013;115:367-80. doi: 10.1016/B978-0-444-52902-2.00020-5. PMID: 23931790
Johnsen B, Fuglsang-Frederiksen A
Neurophysiol Clin 2000 Dec;30(6):339-51. doi: 10.1016/s0987-7053(00)00237-9. PMID: 11191927

Clinical prediction guides

Hamel JI, Logigian EL
Neurology 2023 May 16;100(20):e2134-e2140. Epub 2023 Mar 27 doi: 10.1212/WNL.0000000000207215. PMID: 36973043Free PMC Article
Agergaard J, Yamin Ali Khan B, Engell-Sørensen T, Schiøttz-Christensen B, Østergaard L, Hejbøl EK, Schrøder HD, Andersen H, Blicher JU, Holm Pedersen T, Harbo T, Tankisi H; MULTICOV Consortium
Clin Neurophysiol 2023 Apr;148:65-75. Epub 2023 Feb 1 doi: 10.1016/j.clinph.2023.01.010. PMID: 36804609
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
Al-Zuhairy A, Jakobsen J, Krarup C
Clin Neurophysiol 2021 Apr;132(4):1000-1007. Epub 2021 Jan 19 doi: 10.1016/j.clinph.2020.12.017. PMID: 33581994
Dyck PJ, Taylor BV, Davies JL, Mauermann ML, Litchy WJ, Klein CJ, Dyck PJ
Muscle Nerve 2015 Oct;52(4):488-97. Epub 2015 Aug 13 doi: 10.1002/mus.24707. PMID: 25976871Free PMC Article

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