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Segmental peripheral demyelination/remyelination

MedGen UID:
335873
Concept ID:
C1843077
Finding
Synonym: Segmental demyelination/remyelination
 
HPO: HP:0003481

Definition

A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. [from HPO]

Term Hierarchy

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

Conditions with this feature

Dejerine-Sottas disease
MedGen UID:
3710
Concept ID:
C0011195
Disease or Syndrome
Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).
Roussy-Lévy syndrome
MedGen UID:
64430
Concept ID:
C0205713
Disease or Syndrome
Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999).
Charcot-Marie-Tooth disease, type IA
MedGen UID:
75727
Concept ID:
C0270911
Disease or Syndrome
For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (Lupski et al., 1991, 1992).
Charcot-Marie-Tooth disease type 1C
MedGen UID:
75728
Concept ID:
C0270913
Disease or Syndrome
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).
Hereditary liability to pressure palsies
MedGen UID:
98291
Concept ID:
C0393814
Disease or Syndrome
Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or multiple nerves. The most common initial manifestation is the acute onset of a non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy). The first attack usually occurs in the second or third decade but earlier onset is possible. Neuropathic pain is increasingly recognized as a common manifestation. Recovery from acute neuropathy is usually complete; when recovery is not complete, the resulting disability is mild. Some affected individuals also demonstrate a mild-to-moderate peripheral neuropathy.
Charcot-Marie-Tooth disease type 4D
MedGen UID:
371304
Concept ID:
C1832334
Disease or Syndrome
Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life (summary by Okamoto et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A (214400).
Charcot-Marie-Tooth disease X-linked recessive 5
MedGen UID:
374254
Concept ID:
C1839566
Disease or Syndrome
X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of PRPS1-related disorders, is characterized by peripheral neuropathy, early-onset (prelingual) bilateral profound sensorineural hearing loss, and optic neuropathy. The onset of peripheral neuropathy is between ages five and 12 years. The lower extremities are affected earlier and more severely than upper extremities. Initial manifestations often include foot drop or gait disturbance. Onset of visual impairment is between ages seven and 20 years. Intellect and life span are normal. Carrier females do not have findings of CMTX5.
Charcot-Marie-Tooth disease dominant intermediate D
MedGen UID:
334318
Concept ID:
C1843075
Disease or Syndrome
A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
Charcot-Marie-Tooth disease type 1F
MedGen UID:
334337
Concept ID:
C1843164
Disease or Syndrome
A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2).
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 4B2
MedGen UID:
346869
Concept ID:
C1858278
Disease or Syndrome
Autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. CMT4B1 (601382) is a clinically similar disorder caused by mutation in the MTMR2 gene (603557) on 11q22. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating CMT, see CMT4A (214400).
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).

Recent clinical studies

Etiology

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
Honig LS, Snipes GJ, Vogel H, Horoupian DS
Acta Neurol Scand 1991 Oct;84(4):316-20. doi: 10.1111/j.1600-0404.1991.tb04961.x. PMID: 1663307

Diagnosis

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
Honig LS, Snipes GJ, Vogel H, Horoupian DS
Acta Neurol Scand 1991 Oct;84(4):316-20. doi: 10.1111/j.1600-0404.1991.tb04961.x. PMID: 1663307
Haltia T, Palo J, Haltia M, Icén A
Arch Neurol 1980 Jan;37(1):42-6. doi: 10.1001/archneur.1980.00500500072011. PMID: 6101304

Prognosis

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
Honig LS, Snipes GJ, Vogel H, Horoupian DS
Acta Neurol Scand 1991 Oct;84(4):316-20. doi: 10.1111/j.1600-0404.1991.tb04961.x. PMID: 1663307
Haltia T, Palo J, Haltia M, Icén A
Arch Neurol 1980 Jan;37(1):42-6. doi: 10.1001/archneur.1980.00500500072011. PMID: 6101304
Takahashi K, Nakamura H
Arch Neurol 1976 Dec;33(12):836-41. doi: 10.1001/archneur.1976.00500120040006. PMID: 187157

Clinical prediction guides

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
Rossi A, Ciacci G, Federico A, Mondelli M, Rizzuto N
Acta Neurol Scand 1986 Apr;73(4):363-71. doi: 10.1111/j.1600-0404.1986.tb03291.x. PMID: 3014798
Koch T, Schultz P, Williams R, Lampert P
Ann Neurol 1977 May;1(5):438-51. doi: 10.1002/ana.410010507. PMID: 214018

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