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Charcot-Marie-Tooth disease axonal type 2Q(CMT2Q)

MedGen UID:
767280
Concept ID:
C3554366
Disease or Syndrome
Synonyms: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q
SNOMED CT: Autosomal dominant Charcot-Marie-Tooth disease type 2Q (773393001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): DHTKD1 (10p14)
 
Monarch Initiative: MONDO:0014012
OMIM®: 615025
Orphanet: ORPHA329258

Definition

A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. [from SNOMEDCT_US]

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Distal lower limb muscle weakness
MedGen UID:
324514
Concept ID:
C1836450
Finding
Reduced strength of the distal musculature of the legs.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Impaired distal vibration sensation
MedGen UID:
381262
Concept ID:
C1853767
Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Somatic sensory dysfunction
MedGen UID:
1790456
Concept ID:
C5551413
Finding
An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
Reduced ability to walk (ambulate).
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCharcot-Marie-Tooth disease axonal type 2Q
Follow this link to review classifications for Charcot-Marie-Tooth disease axonal type 2Q in Orphanet.

Recent clinical studies

Etiology

Zhao ZH, Chen ZT, Zhou RL, Wang YZ
Mol Med Rep 2019 May;19(5):4484-4490. Epub 2019 Mar 19 doi: 10.3892/mmr.2019.10058. PMID: 30896807

Prognosis

Zhao ZH, Chen ZT, Zhou RL, Wang YZ
Mol Med Rep 2019 May;19(5):4484-4490. Epub 2019 Mar 19 doi: 10.3892/mmr.2019.10058. PMID: 30896807

Clinical prediction guides

Zhao ZH, Chen ZT, Zhou RL, Wang YZ
Mol Med Rep 2019 May;19(5):4484-4490. Epub 2019 Mar 19 doi: 10.3892/mmr.2019.10058. PMID: 30896807

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