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Charcot-Marie-Tooth disease type 2I(CMT2I)

MedGen UID:: 854756
•Concept ID:: C3888087
•: Disease or Syndrome

Synonyms:	Charcot-Marie-Tooth disease, axonal, Type 2I; Charcot-Marie-Tooth Neuropathy Type 2I; CMT 2I; CMT2I
SNOMED CT:	Autosomal dominant Charcot-Marie-Tooth disease type 2I (717013009)
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.	MPZ (1q23.3)

Monarch Initiative:	MONDO:0011889
OMIM®:	607677
Orphanet:	ORPHA99942

Definition

A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes. [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).

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Upper limb muscle weakness

MedGen UID:: 305607
•Concept ID:: C1698196
•: Finding

Weakness of the muscles of the arms.

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Areflexia

MedGen UID:: 115943
•Concept ID:: C0234146
•: Finding

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

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Steppage gait

MedGen UID:: 98105
•Concept ID:: C0427149
•: Finding

An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.

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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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Decreased number of peripheral myelinated nerve fibers

MedGen UID:: 346872
•Concept ID:: C1858285
•: Finding

A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).

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Axonal degeneration/regeneration

MedGen UID:: 368889
•Concept ID:: C1968790
•: Finding

A pattern of simultaneous degeneration and regeneration of axons (see comment).

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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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Distal amyotrophy

MedGen UID:: 338530
•Concept ID:: C1848736
•: Disease or Syndrome

Muscular atrophy affecting muscles in the distal portions of the extremities.

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Abnormality of limbs
- Pes cavus
- Upper limb muscle weakness
Abnormality of the musculoskeletal system
- Distal amyotrophy
- Distal muscle weakness
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH

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 type 2I

Professional guidelines

Curated

Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.

Aretz S, Rautenstrauss B, Timmerman V
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 May 26 doi: 10.1038/ejhg.2010.75. PMID: 20512157 Free PMC Article

Recent clinical studies

Etiology

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

Nakhro K, Park JM, Kim YJ, Yoon BR, Yoo JH, Koo H, Choi BO, Chung KW
Neuromuscul Disord 2013 Aug;23(8):656-63. Epub 2013 Jun 21 doi: 10.1016/j.nmd.2013.05.009. PMID: 23796487

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Charcot-Marie-Tooth disease type 2I(CMT2I)

Definition

Clinical features

Term Hierarchy

Professional guidelines

Curated

Recent clinical studies

Etiology

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Curated

Molecular resources

Consumer resources

Reviews

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