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Segmental peripheral demyelination

MedGen UID:
870491
Concept ID:
C4024938
Finding
HPO: HP:0007107

Definition

A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSegmental peripheral demyelination

Conditions with this feature

Charcot-Marie-Tooth disease dominant intermediate B
MedGen UID:
338346
Concept ID:
C1847902
Disease or Syndrome
Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Classification CMT neuropathy is subdivided into CMT1 (see 118200) and CMT2 (see 118210) types on the basis of electrophysiologic and neuropathologic criteria. CMT1, or hereditary motor and sensory neuropathy type I (HMSN I), is a demyelinating neuropathy, whereas CMT2, or HMSN II, is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. Families of this type were reported by Salisachs (1974) and Davis et al. (1978). Davis et al. (1978) proposed that this form be designated 'intermediate' CMT. Claeys et al. (2009) stated that some CMT families may have an even broader range of NCV than 25 to 45 m/s, with the lowest levels around 25 and the highest levels within the normal range (50+ m/s). They also suggested that the term 'intermediate' should not be used to describe a single NCV value, but rather the CMT subtype at the level of the family (e.g., in families with a range or combinations of NCV values). Berciano et al. (2017) provided a detailed review of the different forms of intermediate CMT, noting that diagnoses may be controversial because of variable classification issues. The authors presented an algorithm for the interpretation of electrophysiologic studies in CMT, and suggested that nerve conduction studies should be conducted on the upper arm (axilla to elbow). They noted that distal axonal degeneration can result in secondary myelination defects, which may cause significantly decreased motor NCV and CMAP values that may be misinterpreted. Genetic Heterogeneity of Autosomal Dominant Intermediate CMT In addition to CMTDIB, which is caused by mutation in the DNM2 gene, other forms of dominant intermediate CMT include CMTDIA (620378), mapped to chromosome 10q24-q25; CMTDIC (608323), caused by mutation in the YARS gene (603623) on chromosome 1p35; CMTDID (607791), caused by mutation in the MPZ gene (159440) on chromosome 1q22; CMTDIE with focal segmental glomerulosclerosis (CMTDIE; 614455), caused by mutation in the INF2 gene (610982) on chromosome 14q32; CMTDIF (615185), caused by mutation in the GNB4 gene (610863) on chromosome 3q26; and CMTDIG (617882), caused by mutation in the NEFL gene (162280) on chromosome 8p21.
Charcot-Marie-Tooth disease type 4A
MedGen UID:
347821
Concept ID:
C1859198
Disease or Syndrome
GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.
Charcot-Marie-Tooth disease type 4C
MedGen UID:
356581
Concept ID:
C1866636
Disease or Syndrome
SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis or kyphoscoliosis) and foot deformities (pes cavus, pes planus, or pes valgus) that typically present in the first decade of life or early adolescence. Other findings can include cranial nerve involvement (most commonly tongue involvement, facial weakness/paralysis, hearing impairment, dysarthria) and respiratory problems.
Charcot-Marie-Tooth Disease, axonal, type 2GG
MedGen UID:
1794143
Concept ID:
C5561933
Disease or Syndrome
Charcot-Marie-Tooth disease type 2GG (CMT2GG) is an autosomal dominant axonal peripheral neuropathy characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. The onset is usually in adulthood, although rare patients may have mild symptoms from childhood. Some individuals may also have involvement of the hands. Although most patients have hypo- or areflexia at the ankles, distal sensory impairment is not always present, indicating a spectrum of disease encompassing both distal hereditary neuropathy and axonal CMT. Electrophysiologic studies are consistent with a axonal process (summary by Mendoza-Ferreira et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).

Professional guidelines

PubMed

Uncini A
J Peripher Nerv Syst 2023 Jul;28 Suppl 3:S23-S35. doi: 10.1111/jns.12569. PMID: 37272673
Dyck PJB, Tracy JA
Mayo Clin Proc 2018 Jun;93(6):777-793. doi: 10.1016/j.mayocp.2018.03.026. PMID: 29866282
Kuwabara S, Isose S, Mori M, Mitsuma S, Sawai S, Beppu M, Sekiguchi Y, Misawa S
J Neurol Neurosurg Psychiatry 2015 Oct;86(10):1054-9. Epub 2014 Nov 25 doi: 10.1136/jnnp-2014-308452. PMID: 25424435

Recent clinical studies

Etiology

Doneddu PE, Akyil H, Manganelli F, Briani C, Cocito D, Benedetti L, Mazzeo A, Fazio R, Filosto M, Cosentino G, Di Stefano V, Antonini G, Marfia GA, Inghilleri M, Siciliano G, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Matà S, Rosso T, Minicuci GM, Lucchetta M, Cavaletti G, Liberatore G, Spina E, Campagnolo M, Peci E, Germano F, Gentile L, Strano C, Cotti Piccinelli S, Vegezzi E, Leonardi L, Mataluni G, Ceccanti M, Schirinzi E, Romozzi M, Nobile-Orazio E; Italian CIDP Database study group
J Neurol Neurosurg Psychiatry 2023 Aug;94(8):614-621. Epub 2023 Apr 4 doi: 10.1136/jnnp-2022-331011. PMID: 37015771
Vallat JM, Mathis S, Vegezzi E, Richard L, Duchesne M, Gallouedec G, Corcia P, Magy L, Uncini A, Devaux J
Eur J Neurol 2020 Apr;27(4):692-701. Epub 2019 Dec 22 doi: 10.1111/ene.14133. PMID: 31769579
Scollard DM, Truman RW, Ebenezer GJ
Clin Dermatol 2015 Jan-Feb;33(1):46-54. doi: 10.1016/j.clindermatol.2014.07.008. PMID: 25432810
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Diagnosis

Doneddu PE, Akyil H, Manganelli F, Briani C, Cocito D, Benedetti L, Mazzeo A, Fazio R, Filosto M, Cosentino G, Di Stefano V, Antonini G, Marfia GA, Inghilleri M, Siciliano G, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Matà S, Rosso T, Minicuci GM, Lucchetta M, Cavaletti G, Liberatore G, Spina E, Campagnolo M, Peci E, Germano F, Gentile L, Strano C, Cotti Piccinelli S, Vegezzi E, Leonardi L, Mataluni G, Ceccanti M, Schirinzi E, Romozzi M, Nobile-Orazio E; Italian CIDP Database study group
J Neurol Neurosurg Psychiatry 2023 Aug;94(8):614-621. Epub 2023 Apr 4 doi: 10.1136/jnnp-2022-331011. PMID: 37015771
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Kennedy PGE, Gershon AA
Viruses 2018 Nov 2;10(11) doi: 10.3390/v10110609. PMID: 30400213Free PMC Article
Dyck PJB, Tracy JA
Mayo Clin Proc 2018 Jun;93(6):777-793. doi: 10.1016/j.mayocp.2018.03.026. PMID: 29866282
Nemzek WR
Top Magn Reson Imaging 1996 Jun;8(3):132-54. PMID: 8840469

Therapy

Hu N, Niu J, Liu M
Neurol Sci 2022 Oct;43(10):5885-5898. Epub 2022 Jun 23 doi: 10.1007/s10072-022-06215-4. PMID: 35737187
Arányi Z, Kovács T, Sipos I, Bereczki D
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Dyck PJ, Lais AC, Ohta M, Bastron JA, Okazaki H, Groover RV
Mayo Clin Proc 1975 Nov;50(11):621-37. PMID: 1186294

Prognosis

Hu N, Niu J, Liu M
Neurol Sci 2022 Oct;43(10):5885-5898. Epub 2022 Jun 23 doi: 10.1007/s10072-022-06215-4. PMID: 35737187
Scollard DM, Truman RW, Ebenezer GJ
Clin Dermatol 2015 Jan-Feb;33(1):46-54. doi: 10.1016/j.clindermatol.2014.07.008. PMID: 25432810
Van den Bergh PY, Rajabally YA
Presse Med 2013 Jun;42(6 Pt 2):e203-15. Epub 2013 Apr 24 doi: 10.1016/j.lpm.2013.01.056. PMID: 23623582
Nemzek WR
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Rostami AM
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Clinical prediction guides

Singh S, Ness J, Marcus L
J Neuroradiol 2023 Jun;50(4):382-387. Epub 2023 Jan 4 doi: 10.1016/j.neurad.2022.11.003. PMID: 36609068
Hu N, Niu J, Liu M
Neurol Sci 2022 Oct;43(10):5885-5898. Epub 2022 Jun 23 doi: 10.1007/s10072-022-06215-4. PMID: 35737187
Fionda L, Di Pasquale A, Morino S, Leonardi L, Vanoli F, Loreti S, Garibaldi M, Lauletta A, Alfieri G, Bucci E, Salvetti M, Antonini G
J Neurol 2021 Aug;268(8):3011-3019. Epub 2021 Feb 27 doi: 10.1007/s00415-021-10485-x. PMID: 33638679
Lozeron P, Mariani LL, Dodet P, Beaudonnet G, Théaudin M, Adam C, Arnulf B, Adams D
Neurology 2018 Jul 10;91(2):e143-e152. Epub 2018 Jun 15 doi: 10.1212/WNL.0000000000005777. PMID: 29907605
Nemzek WR
Top Magn Reson Imaging 1996 Jun;8(3):132-54. PMID: 8840469

Recent systematic reviews

Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article

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