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Charcot-Marie-Tooth disease type 4

MedGen UID:
905419
•Concept ID:
C4082197
•
Disease or Syndrome
Synonym: Charcot-Marie-Tooth, Type 4
SNOMED CT: Autosomal recessive demyelinating Charcot-Marie-Tooth (715795005); Charcot-Marie-Tooth disease type 4 (715795005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SBF1 (22q13.33)
Related genes: FGD4, SBF2, SH3TC2, PRX, GDAP1, NDRG1, FIG4, MTMR2, PMP22, MPZ, HK1, EGR2
 
Monarch Initiative: MONDO:0018995
Orphanet: ORPHA64749

Definition

Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.
McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075Free PMC Article
Charcot-Marie-Tooth disease: an overview of genotypes, phenotypes, and clinical management strategies.
El-Abassi R, England JD, Carter GT
PM R 2014 Apr;6(4):342-55. Epub 2014 Jan 13 doi: 10.1016/j.pmrj.2013.08.611. PMID: 24434692
Genetic testing practices for Charcot-Marie-Tooth type 1A disease.
Tousignant R, Trepanier A, Shy ME, Siskind CE
Muscle Nerve 2014 Apr;49(4):478-82. Epub 2013 Dec 16 doi: 10.1002/mus.23991. PMID: 23963961

Recent clinical studies

Diagnosis

Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature.
Sy A, Cheng J, Cooper R, Mueller L
J Pediatr Hematol Oncol 2019 Jan;41(1):e41-e43. doi: 10.1097/MPH.0000000000001230. PMID: 29877907
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C
Clin Genet 2007 Apr;71(4):343-9. doi: 10.1111/j.1399-0004.2007.00774.x. PMID: 17470135

Therapy

Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature.
Sy A, Cheng J, Cooper R, Mueller L
J Pediatr Hematol Oncol 2019 Jan;41(1):e41-e43. doi: 10.1097/MPH.0000000000001230. PMID: 29877907

Prognosis

Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature.
Sy A, Cheng J, Cooper R, Mueller L
J Pediatr Hematol Oncol 2019 Jan;41(1):e41-e43. doi: 10.1097/MPH.0000000000001230. PMID: 29877907

Clinical prediction guides

Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.
Kontogeorgiou Z, Nikolaou K, Kartanou C, Breza M, Panas M, Karadima G, Koutsis G
J Peripher Nerv Syst 2019 Mar;24(1):125-130. Epub 2019 Feb 6 doi: 10.1111/jns.12305. PMID: 30653784
Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature.
Sy A, Cheng J, Cooper R, Mueller L
J Pediatr Hematol Oncol 2019 Jan;41(1):e41-e43. doi: 10.1097/MPH.0000000000001230. PMID: 29877907

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