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Charcot-Marie-Tooth disease type X

MedGen UID:
1637021
•Concept ID:
C4551551
•
Disease or Syndrome
Synonyms: CMTX; COWCK; X-linked Charcot-Marie-Tooth disease; X-linked hereditary motor and sensory neuropathy
SNOMED CT: X-linked hereditary motor and sensory neuropathy (230552007); X-linked Charcot-Marie-Tooth disease (230552007)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
X-linked recessive inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018994
Orphanet: ORPHA64747

Definition

A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. [from ORDO]

Professional guidelines

PubMed

Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.
Sun B, Chen ZH, Ling L, Li YF, Liu LZ, Yang F, Huang XS
Chin Med J (Engl) 2016 May 5;129(9):1011-6. doi: 10.4103/0366-6999.180511. PMID: 27098783Free PMC Article
Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. PMID: 16106622

Recent clinical studies

Etiology

Estimating contraction level using root mean square amplitude in control subjects and patients with neuromuscular disorders.
Boe SG, Rice CL, Doherty TJ
Arch Phys Med Rehabil 2008 Apr;89(4):711-8. doi: 10.1016/j.apmr.2007.09.047. PMID: 18374002
Sonography of the median nerve in Charcot-Marie-Tooth disease.
Martinoli C, Schenone A, Bianchi S, Mandich P, Caponetto C, Abbruzzese M, Derchi LE
AJR Am J Roentgenol 2002 Jun;178(6):1553-6. doi: 10.2214/ajr.178.6.1781553. PMID: 12034637

Diagnosis

Estimating contraction level using root mean square amplitude in control subjects and patients with neuromuscular disorders.
Boe SG, Rice CL, Doherty TJ
Arch Phys Med Rehabil 2008 Apr;89(4):711-8. doi: 10.1016/j.apmr.2007.09.047. PMID: 18374002
Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.
Srinivasan J, Leventer RJ, Kornberg AJ, Dahl HH, Ryan MM
Pediatr Neurol 2008 Apr;38(4):293-5. doi: 10.1016/j.pediatrneurol.2007.12.003. PMID: 18358413

Clinical prediction guides

Sonography of the median nerve in Charcot-Marie-Tooth disease.
Martinoli C, Schenone A, Bianchi S, Mandich P, Caponetto C, Abbruzzese M, Derchi LE
AJR Am J Roentgenol 2002 Jun;178(6):1553-6. doi: 10.2214/ajr.178.6.1781553. PMID: 12034637

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    • ClinVar
      Related medical variations
    • GTR
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    • GTR(Clinical)
      Clinical tests in GTR
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      Related literature resources in PubMed

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