Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

MedGen UID:: 1650625
•Concept ID:: C4755257
•: Disease or Syndrome

Synonyms:	autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain; Autosomal dominant intermediate CMT disease with neuropathic pain
SNOMED CT:	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (778003000)
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)

Monarch Initiative:	MONDO:0017937
Orphanet:	ORPHA324585

Definition

A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paresthesia in toes, heels and ankles. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate Charcot-Marie-Tooth disease
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Recent clinical studies

Prognosis

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.

Ramirez JD, Barnes PRJ, Mills KR, Bennett DLH
Pain 2012 Aug;153(8):1763-1768. Epub 2012 Jun 16 doi: 10.1016/j.pain.2012.05.015. PMID: 22704856 Free PMC Article

See all (1)

Clinical prediction guides

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.

Ramirez JD, Barnes PRJ, Mills KR, Bennett DLH
Pain 2012 Aug;153(8):1763-1768. Epub 2012 Jun 16 doi: 10.1016/j.pain.2012.05.015. PMID: 22704856 Free PMC Article

See all (1)

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Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Definition

Term Hierarchy

Recent clinical studies

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity