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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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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).

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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.

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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.

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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.

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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.

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Hyporeflexia

MedGen UID:: 195967
•Concept ID:: C0700078
•: Finding

Reduction of neurologic reflexes such as the knee-jerk reaction.

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Distal sensory impairment

MedGen UID:: 335722
•Concept ID:: C1847584
•: Finding

An abnormal reduction in sensation in the distal portions of the extremities.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Distal muscle weakness

MedGen UID:: 140883
•Concept ID:: C0427065
•: Finding

Reduced strength of the musculature of the distal extremities.

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Difficulty running

MedGen UID:: 108251
•Concept ID:: C0560346
•: Finding

Reduced ability to run.

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Frequent falls

MedGen UID:: 163408
•Concept ID:: C0850703
•: Finding

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Abnormality of limbs
Abnormality of the musculoskeletal system
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCharcot-Marie-Tooth disease

Fetal anomaly
- Congenital Systemic Disorder
  - Abnormality of the nervous system
    - Hereditary motor and sensory neuropathy
      - Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease type 2
        Charcot-Marie-Tooth disease axonal type 2O

Follow this link to review classifications for Charcot-Marie-Tooth disease axonal type 2O in Orphanet.

Recent clinical studies

Etiology

Nitrous-oxide-induced polyneuropathy and subacute combined degeneration of the spine: clinical and diagnostic characteristics in 70 patients, with focus on electrodiagnostic studies.

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: 37754673

A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.

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: 29379136 Free PMC Article

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