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Charcot-Marie-Tooth disease X-linked recessive 3(CMTX3)

MedGen UID:
375530
Concept ID:
C1844865
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth Neuropathy X Type 3; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 3; CMTX 3
SNOMED CT: X-linked Charcot-Marie-Tooth disease type 3 (763458005)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010551
OMIM®: 302802
Orphanet: ORPHA101077

Definition

A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the childhood to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paraesthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. [from SNOMEDCT_US]

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Upper limb muscle weakness
MedGen UID:
305607
Concept ID:
C1698196
Finding
Weakness of the muscles of the arms.
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.
Paraparesis
MedGen UID:
113150
Concept ID:
C0221166
Sign or Symptom
Weakness or partial paralysis in the lower limbs.
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.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Decreased nerve conduction velocity
MedGen UID:
347509
Concept ID:
C1857640
Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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.
EMG: axonal abnormality
MedGen UID:
871138
Concept ID:
C4025609
Pathologic Function
Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.
Hip dysplasia
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
The presence of developmental dysplasia of the hip.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Charcot-Marie-Tooth disease X-linked recessive 3 in Orphanet.

Recent clinical studies

Etiology

Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP
Neurology 2018 May 8;90(19):e1706-e1710. Epub 2018 Apr 6 doi: 10.1212/WNL.0000000000005479. PMID: 29626178
Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML
Mol Genet Genomic Med 2018 May;6(3):422-433. Epub 2018 Mar 23 doi: 10.1002/mgg3.390. PMID: 29573232Free PMC Article
Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G, Kennerson M
Muscle Nerve 2013 Jun;47(6):922-4. Epub 2013 Mar 29 doi: 10.1002/mus.23743. PMID: 23553728Free PMC Article

Diagnosis

Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP
Neurology 2018 May 8;90(19):e1706-e1710. Epub 2018 Apr 6 doi: 10.1212/WNL.0000000000005479. PMID: 29626178
Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML
Mol Genet Genomic Med 2018 May;6(3):422-433. Epub 2018 Mar 23 doi: 10.1002/mgg3.390. PMID: 29573232Free PMC Article

Clinical prediction guides

Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP
Neurology 2018 May 8;90(19):e1706-e1710. Epub 2018 Apr 6 doi: 10.1212/WNL.0000000000005479. PMID: 29626178
Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML
PLoS Genet 2016 Jul;12(7):e1006177. Epub 2016 Jul 20 doi: 10.1371/journal.pgen.1006177. PMID: 27438001Free PMC Article

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