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Demyelinating peripheral neuropathy

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

Definition

Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. [from HPO]

Conditions with this feature

Agenesis of the corpus callosum with peripheral neuropathy
MedGen UID:
162893
Concept ID:
C0795950
Disease or Syndrome
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.
PCWH syndrome
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.
Pontocerebellar hypoplasia type 1A
MedGen UID:
335969
Concept ID:
C1843504
Disease or Syndrome
Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, 253300); death usually occurs early. Genetic Heterogeneity of Pontocerebellar Hypoplasia Also see PCH1B (614678), caused by mutation in the EXOSC3 gene (606489); PCH1C (616081), caused by mutation in the EXOSC8 gene (606019); PCH1D (618065), caused by mutation in the EXOSC9 gene (606180); PCH1E (619303), caused by mutation in the SLC25A46 gene (610826); PCH1F (619304), caused by mutation in the EXOSC1 gene (606493); PCH2A (277470), caused by mutation in the TSEN54 gene (608755); PCH2B (612389), caused by mutation in the TSEN2 gene (608753); PCH2C (612390), caused by mutation in the TSEN34 gene (608754); PCH2D (613811), caused by mutation in the SEPSECS gene (613009); PCH3 (608027), caused by mutation in the PCLO gene (604918); PCH4 (225753), caused by mutation in the TSEN54 gene; PCH5 (610204), caused by mutation in the TSEN54 gene; PCH6 (611523), caused by mutation in the RARS2 gene (611524); PCH7 (614969), caused by mutation in the TOE1 gene (613931); PCH8 (614961), caused by mutation in the CHMP1A gene (164010); PCH9 (615809), caused by mutation in the AMPD2 gene (102771); PCH10 (615803), caused by mutation in the CLP1 gene (608757); PCH11 (617695), caused by mutation in the TBC1D23 gene (617687); PCH12 (618266), caused by mutation in the COASY gene (609855); PCH13 (618606), caused by mutation in the VPS51 gene (615738); PCH14 (619301), caused by mutation in the PPIL1 gene (601301); PCH15 (619302), caused by mutation in the CDC40 gene (605585); PCH16 (619527), caused by mutation in the MINPP1 gene (605391); and PCH17 (619909), caused by mutation in the PRDM13 gene (616741) on chromosome 6q16.
MOGS-congenital disorder of glycosylation
MedGen UID:
342954
Concept ID:
C1853736
Disease or Syndrome
A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).
PHARC syndrome
MedGen UID:
436373
Concept ID:
C2675204
Disease or Syndrome
Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.
Myofibrillar myopathy 6
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). Mutation in the ACO2 gene also causes isolated optic atrophy (OPA9; 616289).
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
MedGen UID:
864165
Concept ID:
C4015728
Disease or Syndrome
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy. However, some patients may not display all features (summary by Picker-Minh et al., 2016, Sharkia et al., 2017). Genetic Heterogeneity of Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease See also IMNEPD2 (619418), caused by mutation in the YARS1 gene (603623) on chromosome 1p35.
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.
PMP22-RAI1 contiguous gene duplication 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).
Neurodevelopmental disorder with hypotonia, 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.
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
MedGen UID:
1811493
Concept ID:
C5676914
Disease or Syndrome
Demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is a neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties. Other features may include spasticity, hyperreflexia, tremor, dysmetria, seizures, or cerebellar findings. Brain imaging may be normal or show nonspecific abnormalities, such as white matter signal changes and delayed myelination (summary by Djordjevic et al., 2021). For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
MedGen UID:
1803456
Concept ID:
C5676965
Disease or Syndrome
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging (Kurolap et al., 2022).

Professional guidelines

PubMed

Khouri J, Nakashima M, Wong S
JAMA Oncol 2021 Sep 1;7(9):1383-1391. doi: 10.1001/jamaoncol.2021.0586. PMID: 34081097
Herrendorff R, Hänggi P, Pfister H, Yang F, Demeestere D, Hunziker F, Frey S, Schaeren-Wiemers N, Steck AJ, Ernst B
Proc Natl Acad Sci U S A 2017 May 2;114(18):E3689-E3698. Epub 2017 Apr 17 doi: 10.1073/pnas.1619386114. PMID: 28416698Free PMC Article
Cornblath DR, Chaudhry V, Griffin JW
Ann Neurol 1991 Jul;30(1):104-6. doi: 10.1002/ana.410300119. PMID: 1929221

Curated

UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023

Recent clinical studies

Etiology

Zivkovic SA, DiCapua D
J Clin Neuromuscul Dis 2024 Mar 1;25(3):152-156. doi: 10.1097/CND.0000000000000481. PMID: 38441936
Créange A, Hutin E, Sedel F, Le Vigouroux L, Lefaucheur JP
BMC Neurol 2023 Oct 30;23(1):389. doi: 10.1186/s12883-023-03440-y. PMID: 37899433Free PMC Article
Hashiba J, Yokota H, Abe K, Sekiguchi Y, Ikeda S, Sugiyama A, Kuwabara S, Uno T
Acta Radiol 2023 Sep;64(9):2627-2635. Epub 2023 Jun 27 doi: 10.1177/02841851231181680. PMID: 37376758
Yang H, Wang X, Wang Z, Wang G, Fu S, Li F, Yang L, Yuan Y, Shen K, Wang H, Wang Z
J Virol 2023 May 31;97(5):e0165822. Epub 2023 Apr 18 doi: 10.1128/jvi.01658-22. PMID: 37071015Free PMC Article
Lunn MP, Nobile-Orazio E
Cochrane Database Syst Rev 2012 May 16;(5):CD002827. doi: 10.1002/14651858.CD002827.pub3. PMID: 22592686

Diagnosis

Khouri J, Nakashima M, Wong S
JAMA Oncol 2021 Sep 1;7(9):1383-1391. doi: 10.1001/jamaoncol.2021.0586. PMID: 34081097
Wright GC, Brown R, Grayton H, Livingston JH, Park SM, Parker APJ, Patel A, Simonic I, Thomas AG, Vadlamani G, Horvath R, Harijan PD
Clin Genet 2020 Aug;98(2):147-154. Epub 2020 Jun 10 doi: 10.1111/cge.13771. PMID: 32385905
Kim YH, Jang SY, Shin YK, Jo YR, Yoon BA, Nam SH, Choi BO, Shin HY, Kim SW, Kim SH, Kim JK, Park HT
Sci Rep 2019 Nov 11;9(1):16535. doi: 10.1038/s41598-019-52643-2. PMID: 31712675Free PMC Article
Ayyar DR, Sharma KR
Curr Diab Rep 2004 Dec;4(6):409-12. doi: 10.1007/s11892-004-0048-y. PMID: 15539003
Ugalde V, Rosen BS
Phys Med Rehabil Clin N Am 2001 May;12(2):365-80. PMID: 11345013

Therapy

Créange A, Hutin E, Sedel F, Le Vigouroux L, Lefaucheur JP
BMC Neurol 2023 Oct 30;23(1):389. doi: 10.1186/s12883-023-03440-y. PMID: 37899433Free PMC Article
Lunn MP, Nobile-Orazio E
Cochrane Database Syst Rev 2016 Oct 4;10(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 M
J Peripher Nerv Syst 2008 Dec;13(4):264-6. doi: 10.1111/j.1529-8027.2008.00191.x. PMID: 19192065
Latov N
Ann Neurol 1995 May;37 Suppl 1:S32-42. doi: 10.1002/ana.410370705. PMID: 8968215

Prognosis

Hashiba J, Yokota H, Abe K, Sekiguchi Y, Ikeda S, Sugiyama A, Kuwabara S, Uno T
Acta Radiol 2023 Sep;64(9):2627-2635. Epub 2023 Jun 27 doi: 10.1177/02841851231181680. PMID: 37376758
Khouri J, Nakashima M, Wong S
JAMA Oncol 2021 Sep 1;7(9):1383-1391. doi: 10.1001/jamaoncol.2021.0586. PMID: 34081097
Owens GM
Am J Manag Care 2018 Sep;24(17 Suppl):S380-S384. PMID: 30312033
Dibbens L, Schwake M, Saftig P, Rubboli G
Epileptic Disord 2016 Sep 1;18(S2):63-72. doi: 10.1684/epd.2016.0843. PMID: 27582254
Ugalde V, Rosen BS
Phys Med Rehabil Clin N Am 2001 May;12(2):365-80. PMID: 11345013

Clinical prediction guides

Zivkovic SA, DiCapua D
J Clin Neuromuscul Dis 2024 Mar 1;25(3):152-156. doi: 10.1097/CND.0000000000000481. PMID: 38441936
Créange A, Hutin E, Sedel F, Le Vigouroux L, Lefaucheur JP
BMC Neurol 2023 Oct 30;23(1):389. doi: 10.1186/s12883-023-03440-y. PMID: 37899433Free PMC Article
Khouri J, Nakashima M, Wong S
JAMA Oncol 2021 Sep 1;7(9):1383-1391. doi: 10.1001/jamaoncol.2021.0586. PMID: 34081097
Kim YH, Jang SY, Shin YK, Jo YR, Yoon BA, Nam SH, Choi BO, Shin HY, Kim SW, Kim SH, Kim JK, Park HT
Sci Rep 2019 Nov 11;9(1):16535. doi: 10.1038/s41598-019-52643-2. PMID: 31712675Free PMC Article
Lunn MP, Nobile-Orazio E
Cochrane Database Syst Rev 2012 May 16;(5):CD002827. doi: 10.1002/14651858.CD002827.pub3. PMID: 22592686

Recent systematic reviews

Lunn MP, Nobile-Orazio E
Cochrane Database Syst Rev 2016 Oct 4;10(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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    Curated

    • NICE, 2023
      UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023

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