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Charcot-Marie-Tooth disease type 2J(CMT2J)

MedGen UID:
375107
Concept ID:
C1843153
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth disease, axonal, Type 2J; Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J; CMT 2J; CMT2J
SNOMED CT: Autosomal dominant Charcot-Marie-Tooth disease type 2J (717014003)
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): MPZ (1q23.3)
 
Monarch Initiative: MONDO:0011903
OMIM®: 607736
Orphanet: ORPHA99943

Definition

For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

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).
Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Peripheral demyelination
MedGen UID:
451074
Concept ID:
C0878575
Pathologic Function
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Axonal degeneration/regeneration
MedGen UID:
368889
Concept ID:
C1968790
Finding
A pattern of simultaneous degeneration and regeneration of axons (see comment).
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Recurrent coughing spasms
MedGen UID:
814056
Concept ID:
C3807726
Sign or Symptom
Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.
Slow pupillary light response
MedGen UID:
868184
Concept ID:
C4022576
Finding
Reduced velocity and acceleration in the pupillary light response.

Term Hierarchy

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

Professional guidelines

Curated

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: 20512157Free PMC Article

Recent clinical studies

Prognosis

Gallardo E, García A, Ramón C, Maraví E, Infante J, Gastón I, Alonso Á, Combarros O, De Jonghe P, Berciano J
J Neurol 2009 Dec;256(12):2061-71. doi: 10.1007/s00415-009-5251-y. PMID: 19629567

Clinical prediction guides

Leal A, Berghoff C, Berghoff M, Rojas-Araya M, Carolina O, Heuss D, Del Valle G, Rautenstrauss B
Rev Biol Trop 2014 Dec;62(4):1285-93. doi: 10.15517/rbt.v62i4.13473. PMID: 25720167
Gallardo E, García A, Ramón C, Maraví E, Infante J, Gastón I, Alonso Á, Combarros O, De Jonghe P, Berciano J
J Neurol 2009 Dec;256(12):2061-71. doi: 10.1007/s00415-009-5251-y. PMID: 19629567

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    Curated

    • EuroGenetest, 2010
      Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

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