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Charcot-Marie-Tooth disease axonal type 2O(CMT2O)

MedGen UID:
481850
Concept ID:
C3280220
Disease or Syndrome
Synonyms: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O; Charcot-Marie-Tooth disease, axonal, type 20; Charcot-Marie-Tooth Neuropathy Type 2O; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O
SNOMED CT: Autosomal dominant Charcot-Marie-Tooth disease type 2O (782829002)
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): DYNC1H1 (14q32.31)
 
Monarch Initiative: MONDO:0013644
OMIM®: 614228
Orphanet: ORPHA284232

Definition

A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. [from SNOMEDCT_US]

Clinical features

From HPO
Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
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).
Talipes
MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Difficulty running
MedGen UID:
108251
Concept ID:
C0560346
Finding
Reduced ability to run.
Frequent falls
MedGen UID:
163408
Concept ID:
C0850703
Finding

Term Hierarchy

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

Recent clinical studies

Etiology

Hassing LT, Jiang FY, Zutt R, Arends S
Eur J Neurol 2024 Jan;31(1):e16076. Epub 2023 Sep 27 doi: 10.1111/ene.16076. PMID: 37754673Free PMC Article
Sabblah TT, Nandini S, Ledray AP, Pasos J, Calderon JLC, Love R, King LE, King SJ
Sci Rep 2018 Jan 29;8(1):1739. doi: 10.1038/s41598-018-20081-1. PMID: 29379136Free PMC Article

Diagnosis

Hassing LT, Jiang FY, Zutt R, Arends S
Eur J Neurol 2024 Jan;31(1):e16076. Epub 2023 Sep 27 doi: 10.1111/ene.16076. PMID: 37754673Free PMC Article

Therapy

Hassing LT, Jiang FY, Zutt R, Arends S
Eur J Neurol 2024 Jan;31(1):e16076. Epub 2023 Sep 27 doi: 10.1111/ene.16076. PMID: 37754673Free PMC Article

Clinical prediction guides

Hassing LT, Jiang FY, Zutt R, Arends S
Eur J Neurol 2024 Jan;31(1):e16076. Epub 2023 Sep 27 doi: 10.1111/ene.16076. PMID: 37754673Free PMC Article

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