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Charcot-Marie-Tooth disease dominant intermediate C(CMTDIC)

MedGen UID:: 334023
•Concept ID:: C1842237
•: Disease or Syndrome

Synonyms:	CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C; CMTDIC
SNOMED CT:	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (765746008)
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.	YARS1 (1p35.1)

Monarch Initiative:	MONDO:0012012
OMIM®:	608323
Orphanet:	ORPHA100045

Definition

A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs. [from SNOMEDCT_US]

Clinical features

From HPO

Hand muscle weakness

MedGen UID:: 66798
•Concept ID:: C0239831
•: Finding

Reduced strength of the musculature of the hand.

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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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Abnormal foot morphology

MedGen UID:: 1762829
•Concept ID:: C5399834
•: Anatomical Abnormality

An abnormality of the skeleton of foot.

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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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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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Onion bulb formation

MedGen UID:: 376237
•Concept ID:: C1847906
•: Finding

Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.

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Decreased sensory nerve conduction velocity

MedGen UID:: 336512
•Concept ID:: C1849148
•: Finding

Reduced speed of conduction of the action potential along a sensory nerve.

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Axonal regeneration

MedGen UID:: 340241
•Concept ID:: C1854454
•: Finding

The presence of axonal regeneration following a previous axonal lesion.

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Decreased motor nerve conduction velocity

MedGen UID:: 388130
•Concept ID:: C1858729
•: Finding

A type of decreased nerve conduction velocity that affects the motor neuron.

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Difficulty walking

MedGen UID:: 86319
•Concept ID:: C0311394
•: Finding

Reduced ability to walk (ambulate).

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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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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
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

Autosomal dominant intermediate Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease dominant intermediate C

Follow this link to review classifications for Charcot-Marie-Tooth disease dominant intermediate C in Orphanet.

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

Longitudinal 16-year study of dominant intermediate CMT type C neuropathy.

Pan Y, Kafaie J, Thomas FP
Muscle Nerve 2020 Jan;61(1):111-115. Epub 2019 Oct 17 doi: 10.1002/mus.26724. PMID: 31587308

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Diagnosis

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

Thomas FP, Guergueltcheva V, Gondim FA, Tournev I, Rao CV, Ishpekova B, Kinsella LJ, Pan Y, Geller TJ, Litvinenko I, De Jonghe P, Scherer SS, Jordanova A
J Neurol 2016 Mar;263(3):467-76. Epub 2016 Jan 2 doi: 10.1007/s00415-015-7989-8. PMID: 26725087

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