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Chronic axonal neuropathy

MedGen UID:
867220
Concept ID:
C4021578
Disease or Syndrome
Synonym: Chronic sural axonal neuropathy
 
HPO: HP:0007267

Definition

An abnormality characterized by chronic impairment of the normal functioning of the axons. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic axonal neuropathy

Conditions with this feature

Charcot-Marie-Tooth disease axonal type 2F
MedGen UID:
335784
Concept ID:
C1847823
Disease or Syndrome
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop.
Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain
MedGen UID:
342395
Concept ID:
C1850022
Disease or Syndrome
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
MedGen UID:
340052
Concept ID:
C1853761
Disease or Syndrome
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).
Neuronopathy, distal hereditary motor, autosomal dominant 1
MedGen UID:
356618
Concept ID:
C1866784
Disease or Syndrome
Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons (Irobi et al., 2006). Historically, Harding (1993) proposed a clinical classification of distal HMN into 7 phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features; see NOMENCLATURE. Genetic Heterogeneity of Autosomal Dominant Distal Hereditary Motor Neuronopathy Genetically distinct forms of autosomal dominant distal hereditary motor neuropathy include HMND1; HMND2 (158590), caused by mutation in the HSPB8 gene (608014); HMND3 (608634), caused by mutation in the HSPB1 gene (602195); HMND4 (613376), caused by mutation in the HSPB3 gene (604624); HMND5 (600794), caused by mutation in the GARS gene (600287); HMND6 (615575), caused by mutation in the FBXO38 gene (608533); HMND7 (158580), caused by mutation in the SLC5A7 gene (608761); HMND8 (600175), caused by mutation in the TRPV4 gene (605427); HMND9 (617721), caused by mutation in the WARS gene (191050); HMND10 (620080), caused by mutation in the EMILIN1 gene (130660); HMND11 (620528), caused by mutation in the SPTAN1 gene (182810); HMND12 (614751), caused by mutation in the REEP1 gene (609139); HMND13 (619112), caused by mutation in the BSCL2 gene (606158); and HMND14 (607641), caused by mutation in the DCTN1 gene (601143). See also X-linked HMN (HMNX; 300489), caused by mutation in the ATP7A gene (300011) on chromosome Xq21. Additional disorders with overlapping features include autosomal dominant ALS4 (602433), caused by mutation in the SETX gene (608465); and CMS7A (616040), caused by mutation in the SYT2 gene (600104).
COG8-congenital disorder of glycosylation
MedGen UID:
409971
Concept ID:
C1970021
Disease or Syndrome
Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.
EAST syndrome
MedGen UID:
411243
Concept ID:
C2748572
Disease or Syndrome
Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive.
Neuropathy, hereditary sensory and autonomic, type 1A
MedGen UID:
1716450
Concept ID:
C5235211
Disease or Syndrome
SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable.

Professional guidelines

PubMed

Pitarokoili K, Gold R, Fisse AL
Curr Opin Neurol 2023 Oct 1;36(5):373-381. Epub 2023 Jun 23 doi: 10.1097/WCO.0000000000001183. PMID: 37382111
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article
van Doorn PA
Presse Med 2013 Jun;42(6 Pt 2):e193-201. Epub 2013 Apr 28 doi: 10.1016/j.lpm.2013.02.328. PMID: 23628447

Recent clinical studies

Etiology

Almutawea LM, Hajeri AAA, Farid EM, Bushail MY, Ali AK
Neurosciences (Riyadh) 2023 Apr;28(2):130-135. doi: 10.17712/nsj.2023.2.20220119. PMID: 37045466Free PMC Article
Lagarde J, Viala K, Fournier E
Muscle Nerve 2014 Jun;49(6):895-9. doi: 10.1002/mus.24080. PMID: 24114712
Luostarinen L, Himanen SL, Luostarinen M, Collin P, Pirttilä T
J Neurol Neurosurg Psychiatry 2003 Apr;74(4):490-4. doi: 10.1136/jnnp.74.4.490. PMID: 12640070Free PMC Article
Hardie RJ, Pullon HW, Harding AE, Owen JS, Pires M, Daniels GL, Imai Y, Misra VP, King RH, Jacobs JM
Brain 1991 Feb;114 ( Pt 1A):13-49. PMID: 1998879
MacKenzie RA, Skuse NF, Lethlean AK
Proc Aust Assoc Neurol 1976;13:43-9. PMID: 196281

Diagnosis

Almutawea LM, Hajeri AAA, Farid EM, Bushail MY, Ali AK
Neurosciences (Riyadh) 2023 Apr;28(2):130-135. doi: 10.17712/nsj.2023.2.20220119. PMID: 37045466Free PMC Article
Fabrizi GM, Høyer H, Taioli F, Cavallaro T, Hilmarsen HT, Squintani GM, Zanette G, Braathen GJ
Neuromuscul Disord 2020 Mar;30(3):227-231. Epub 2020 Jan 17 doi: 10.1016/j.nmd.2019.12.007. PMID: 32085962
Sharma KR, Saadia D, Facca AG, Resnick S, Ayyar DR
Acta Neurol Scand 2009 Apr;119(4):224-32. Epub 2008 Jul 29 doi: 10.1111/j.1600-0404.2008.01078.x. PMID: 18664243
Spies JM
Med J Aust 2001 Jun 4;174(11):598-604. doi: 10.5694/j.1326-5377.2001.tb143451.x. PMID: 11453336
De Deyn PP, Ceuterick C, Saxena V, Crols R, Chappel R, Martin JJ
Acta Neurol Belg 1995;95(1):29-32. PMID: 7725894

Therapy

Almutawea LM, Hajeri AAA, Farid EM, Bushail MY, Ali AK
Neurosciences (Riyadh) 2023 Apr;28(2):130-135. doi: 10.17712/nsj.2023.2.20220119. PMID: 37045466Free PMC Article
Luostarinen L, Himanen SL, Luostarinen M, Collin P, Pirttilä T
J Neurol Neurosurg Psychiatry 2003 Apr;74(4):490-4. doi: 10.1136/jnnp.74.4.490. PMID: 12640070Free PMC Article
De Deyn PP, Ceuterick C, Saxena V, Crols R, Chappel R, Martin JJ
Acta Neurol Belg 1995;95(1):29-32. PMID: 7725894

Prognosis

Saveri P, De Luca M, Nisi V, Pisciotta C, Romano R, Piscosquito G, Reilly MM, Polke JM, Cavallaro T, Fabrizi GM, Fossa P, Cichero E, Lombardi R, Lauria G, Magri S, Taroni F, Pareyson D, Bucci C
Cells 2020 Apr 21;9(4) doi: 10.3390/cells9041028. PMID: 32326241Free PMC Article
Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E
Neuromolecular Med 2016 Mar;18(1):81-90. Epub 2015 Nov 16 doi: 10.1007/s12017-015-8379-1. PMID: 26573920
Boukriche Y, Maisonobe T, Masson C
Muscle Nerve 2002 Jan;25(1):98-101. doi: 10.1002/mus.1213. PMID: 11754191
Hardie RJ, Pullon HW, Harding AE, Owen JS, Pires M, Daniels GL, Imai Y, Misra VP, King RH, Jacobs JM
Brain 1991 Feb;114 ( Pt 1A):13-49. PMID: 1998879

Clinical prediction guides

Saveri P, De Luca M, Nisi V, Pisciotta C, Romano R, Piscosquito G, Reilly MM, Polke JM, Cavallaro T, Fabrizi GM, Fossa P, Cichero E, Lombardi R, Lauria G, Magri S, Taroni F, Pareyson D, Bucci C
Cells 2020 Apr 21;9(4) doi: 10.3390/cells9041028. PMID: 32326241Free PMC Article
Luostarinen L, Himanen SL, Luostarinen M, Collin P, Pirttilä T
J Neurol Neurosurg Psychiatry 2003 Apr;74(4):490-4. doi: 10.1136/jnnp.74.4.490. PMID: 12640070Free PMC Article
Khalili-Shirazi A, Gregson NA, Londei M, Summers L, Hughes RA
J Neurol Sci 1998 Jun 30;158(2):154-63. doi: 10.1016/s0022-510x(98)00121-x. PMID: 9702686
De Deyn PP, Ceuterick C, Saxena V, Crols R, Chappel R, Martin JJ
Acta Neurol Belg 1995;95(1):29-32. PMID: 7725894
Thomas FP, Vallejos U, Foitl DR, Miller JR, Barrett R, Fetell MR, Knowles DM, Latov N, Hays AP
Acta Neuropathol 1990;80(2):198-203. doi: 10.1007/BF00308924. PMID: 2167605

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