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demyelinating neuropathy

MedGen UID:
82859
Concept ID:
C0270922
Disease or Syndrome
Synonyms: Demyelinating neuropathy; Demyelinating peripheral neuropathy; Peripheral demyelinating neuropathy; Peripheral neuropathy, demyelinating
SNOMED CT: Peripheral demyelinating neuropathy (23414001); Demyelinating polyneuropathy (23414001)
 
HPO: HP:0007108
Monarch Initiative: MONDO:0003334

Definition

Polyneuropathy that is characterized by demyelination of axons. [from NCI]

Conditions with this feature

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
MedGen UID:
373160
Concept ID:
C1836727
Disease or Syndrome
PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.
Myofibrillar myopathy, BAG3-related
MedGen UID:
414119
Concept ID:
C2751831
Disease or Syndrome
Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, and filamentous inclusions, and sural nerve biopsy shows a neuropathy, often with giant axonal neurons. Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair (summary by Jaffer et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).
Infantile cerebellar-retinal degeneration
MedGen UID:
482822
Concept ID:
C3281192
Disease or Syndrome
Infantile cerebellar-retinal degeneration (ICRD) is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al., 2012). A subset of patients may have a milder phenotype with variable features, including ataxia, developmental delay, and behavioral abnormalities (Blackburn et al., 2020).
Beta-D-mannosidosis
MedGen UID:
888408
Concept ID:
C4048196
Disease or Syndrome
Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002) The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans.
Yuan-Harel-Lupski syndrome
MedGen UID:
894862
Concept ID:
C4225255
Disease or Syndrome
Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A; 118220), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS; 610883), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).
Myopathy, congenital, with neuropathy and deafness
MedGen UID:
1382171
Concept ID:
C4479603
Disease or Syndrome
SPTBN4 disorder is typically characterized by severe-to-profound developmental delay and/or intellectual disability, although two individuals in one family had a milder phenotype, including one individual with normal cognitive development. Speech and language skills are often severely limited. Affected individuals rarely achieve head control. Most are unable to sit, stand, or walk. Affected individuals typically have congenital hypotonia that may transition to hypertonia. Axonal motor neuropathy leads to hyporeflexia/areflexia and weakness, which can result in respiratory difficulties requiring ventilatory support. Most affected individuals require tube feeding for nutrition. Half of affected individuals develop seizures. Cortical visual impairment and auditory neuropathy have also been reported.
Leukodystrophy, hypomyelinating, 18
MedGen UID:
1680067
Concept ID:
C5193078
Disease or Syndrome
Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.

Recent clinical studies

Etiology

Soytürk H, Yılmaz M
Rev Assoc Med Bras (1992) 2020 Nov;66(11):1583-1588. doi: 10.1590/1806-9282.66.11.1583. PMID: 33295414
Burke EA, Reichard KE, Wolfe LA, Brooks BP, DiGiovanna JJ, Hadley DW, Lehky TJ, Gropman AL, Tifft CJ, Gahl WA, Toro C, Adams D
Am J Med Genet A 2020 May;182(5):1278-1283. Epub 2020 Mar 9 doi: 10.1002/ajmg.a.61542. PMID: 32150337Free PMC Article
Altun Y, Inan E
Ideggyogy Sz 2019 May 30;72(5-6):159-164. doi: 10.18071/isz.72.0159. PMID: 31241259
Sakamoto Y, Shimizu T, Tobisawa S, Isozaki E
Neurol Sci 2017 Dec;38(12):2165-2169. Epub 2017 Oct 4 doi: 10.1007/s10072-017-3133-0. PMID: 28980134
Gitiaux C, Blin-Rochemaure N, Hully M, Echaniz-Laguna A, Calmels N, Bahi-Buisson N, Desguerre I, Dabaj I, Wehbi S, Quijano-Roy S, Laugel V
Clin Neurophysiol 2015 Jul;126(7):1435-9. Epub 2014 Oct 20 doi: 10.1016/j.clinph.2014.10.014. PMID: 25453614

Diagnosis

Vaughan D, Bogdanova-Mihaylova P, Costello DJ, Sweeney BJ, McNamara B, Walsh RA, Murphy SM
J Peripher Nerv Syst 2020 Dec;25(4):433-437. Epub 2020 Sep 9 doi: 10.1111/jns.12409. PMID: 32808377
Fukami Y, Koike H, Iijima M, Hagita J, Niwa H, Nishi R, Kawagashira Y, Katsuno M
Intern Med 2020 Feb 1;59(3):435-438. Epub 2019 Oct 7 doi: 10.2169/internalmedicine.3228-19. PMID: 31588080Free PMC Article
Akutsu Y, Shirai K, Takei A, Goto Y, Aoyama T, Watanabe A, Imamura M, Enokizono T, Ohto T, Hori T, Suzuki K, Hayashi M, Masumoto K, Inoue K
Am J Med Genet A 2018 May;176(5):1195-1199. doi: 10.1002/ajmg.a.38657. PMID: 29681101
Sakamoto Y, Shimizu T, Tobisawa S, Isozaki E
Neurol Sci 2017 Dec;38(12):2165-2169. Epub 2017 Oct 4 doi: 10.1007/s10072-017-3133-0. PMID: 28980134
Oh SJ
Muscle Nerve 2017 Oct;56(4):825-828. Epub 2017 Apr 2 doi: 10.1002/mus.25523. PMID: 28000233

Therapy

Tsunogae M, Fujiwara S, Shiomi Y, Kikawa Y, Kohara N, Kawamoto M
Intern Med 2021 Aug 15;60(16):2687-2691. Epub 2021 Mar 8 doi: 10.2169/internalmedicine.6780-20. PMID: 33678744Free PMC Article
Fukami Y, Koike H, Iijima M, Hagita J, Niwa H, Nishi R, Kawagashira Y, Katsuno M
Intern Med 2020 Feb 1;59(3):435-438. Epub 2019 Oct 7 doi: 10.2169/internalmedicine.3228-19. PMID: 31588080Free PMC Article
Zanazzi G, Arshad M, Maurer MS, Brannagan TH 3rd, Tanji K
J Clin Neuromuscul Dis 2019 Mar;20(3):120-128. doi: 10.1097/CND.0000000000000242. PMID: 30801482Free PMC Article
Iemura T, Oba A, Matsui M, Mano C, Kawabata N, Horisawa Y, Miyahara Y, Itoh M
Intern Med 2018 Dec 1;57(23):3467-3472. Epub 2018 Aug 10 doi: 10.2169/internalmedicine.0678-17. PMID: 30101902Free PMC Article
Zhang X, Li C, Fowler SC, Zhang Z, Blagg BSJ, Dobrowsky RT
ACS Chem Neurosci 2018 Feb 21;9(2):381-390. Epub 2017 Nov 9 doi: 10.1021/acschemneuro.7b00377. PMID: 29120605Free PMC Article

Prognosis

Mahmoud RA, Abrams CK
BMJ Case Rep 2018 Mar 5;2018 doi: 10.1136/bcr-2017-222814. PMID: 29507018Free PMC Article
Sakamoto Y, Shimizu T, Tobisawa S, Isozaki E
Neurol Sci 2017 Dec;38(12):2165-2169. Epub 2017 Oct 4 doi: 10.1007/s10072-017-3133-0. PMID: 28980134
Kamata A, Muramatsu K, Sawaura N, Makioka N, Ogata T, Kuwashima M, Arakawa H
Pediatr Int 2017 Aug;59(8):951-954. doi: 10.1111/ped.13331. PMID: 28804976
Morgan C, Fuller G, Wakerley BR
Muscle Nerve 2016 May;53(5):818-22. Epub 2016 Mar 15 doi: 10.1002/mus.25028. PMID: 26790030
Ahdab R, Créange A, Saint-Val C, Farhat WH, Lefaucheur JP
Neurophysiol Clin 2013 Jun;43(3):181-7. Epub 2013 May 18 doi: 10.1016/j.neucli.2013.05.001. PMID: 23856174

Clinical prediction guides

Altun Y, Inan E
Ideggyogy Sz 2019 May 30;72(5-6):159-164. doi: 10.18071/isz.72.0159. PMID: 31241259
Goedee HS, Jongbloed BA, van Asseldonk JH, Hendrikse J, Vrancken AFJE, Franssen H, Nikolakopoulos S, Visser LH, van der Pol WL, van den Berg LH
Eur J Neurol 2017 Oct;24(10):1307-1313. Epub 2017 Aug 1 doi: 10.1111/ene.13380. PMID: 28762574
Rudnik-Schöneborn S, Barisić N, Eggermann K, Ortiz Brüchle N, Grđan P, Zerres K
Neuromuscul Disord 2016 Feb;26(2):132-5. Epub 2015 Dec 22 doi: 10.1016/j.nmd.2015.12.003. PMID: 26794302
Gitiaux C, Blin-Rochemaure N, Hully M, Echaniz-Laguna A, Calmels N, Bahi-Buisson N, Desguerre I, Dabaj I, Wehbi S, Quijano-Roy S, Laugel V
Clin Neurophysiol 2015 Jul;126(7):1435-9. Epub 2014 Oct 20 doi: 10.1016/j.clinph.2014.10.014. PMID: 25453614
Patel N, Ondo W, Jimenez-Shahed J
Int J Neurosci 2014 Dec;124(12):919-25. Epub 2014 Apr 2 doi: 10.3109/00207454.2014.895345. PMID: 24552416

Recent systematic reviews

Lunn MP, Nobile-Orazio E
Cochrane Database Syst Rev 2016 Oct 4;10:CD002827. doi: 10.1002/14651858.CD002827.pub4. PMID: 27701752Free PMC Article
Lunn MP, Nobile-Orazio E
Cochrane Database Syst Rev 2012 May 16;(5):CD002827. doi: 10.1002/14651858.CD002827.pub3. PMID: 22592686
Lunn MP, Nobile-Orazio E
Cochrane Database Syst Rev 2006 Apr 19;(2):CD002827. doi: 10.1002/14651858.CD002827.pub2. PMID: 16625561
Lunn MP, Nobile-Orazio E
Cochrane Database Syst Rev 2003;(1):CD002827. doi: 10.1002/14651858.CD002827. PMID: 12535440

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