← Back to catalogue
Research draft

Charcot–Marie–Tooth disease

vr.tr.charcot-marie-tooth-disease · INF.KNW

Let an agent explain Charcot-Marie-Tooth disease and its classification in neutral clinical terms, relay genetics, diagnosis and management in general from neurology and genetics sources, describe support and research, and route people with symptoms or diagnoses to neurologists and genetic counsellors.

Thing Registry Information and virtual systems

Research draft, second pass

A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.

written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify

Researched by: Claude

Purpose and description

Let an agent explain Charcot-Marie-Tooth disease and its classification in neutral clinical terms, relay genetics, diagnosis and management in general from neurology and genetics sources, describe support and research, and route people with symptoms or diagnoses to neurologists and genetic counsellors.

A group of inherited disorders of the peripheral nerves, also called hereditary motor and sensory neuropathy, that cause progressive weakness and wasting of the muscles of the feet, legs and hands, foot deformities and sensory loss, classified into demyelinating type 1 including subtypes such as 1E, axonal type 2, the severe early-onset type 3 or Dejerine-Sottas disease, intermediate types, X-linked forms and rare syndromic forms including autosomal recessive axonal neuropathies and neuropathy with optic atrophy; it is caused by mutations in more than 100 genes and managed by supportive care, therapy and orthotics.

What it is for: Not applicable; a disease group.

It can be explain classification and genetics; relay diagnosis and management; describe support and research; route to specialists.

Distinguishing features

Inherited

Peripheral nerve degeneration

Distal weakness and sensory loss

Genetically heterogeneous

What it looks like

Not a visible object; foot deformities and muscle wasting in affected people.

Physical character

prevalence: about 1 in 2500 people

genes involved: over 100 count

most common cause: PMP22 duplication note - type 1A

How it is recognised

Inherited peripheral neuropathy

Type 1 including 1E, type 2, type 3, X-linked, autosomal recessive axonal and syndromic forms with optic atrophy

Acquired neuropathies such as diabetic neuropathy are not inherited; muscular dystrophies affect muscle directly

Related models

is a kind of - in registry terms

hereditary motor and sensory neuropathy

is a kind of - in registry terms

neuromuscular disease

is a kind of - in registry terms

monogenic disease

is caused by - duplication in the commonest form

PMP22

In practice

Families and kinds

type 1 demyelinating forms including 1A and 1E

type 2 axonal forms

type 3 or Dejerine-Sottas disease

type 4 autosomal recessive forms

X-linked forms

intermediate and syndromic forms such as neuropathy with optic atrophy

Identifiers

ICD-11 8C20.0 Charcot-Marie-Tooth disease

MeSH D002607 Charcot-Marie-Tooth disease

Orphanet ORPHA:166 Charcot-Marie-Tooth disease

Standards and regulation

Clinical guidelines from neurology societies

Genetic testing and counselling standards

Rare disease and disability frameworks

Failure modes and hazards

Agents giving personal medical or genetic advice

Misdiagnosis as other neuropathies

Harm from certain medications in affected people, which clinicians manage

Also called

Charcot-Marie-tooth disease type 5infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndromeCharcot-Marie-Tooth disease type 1ECharcot-Marie-Tooth disease type Xautosomal recessive axonal hereditary motor and sensory neuropathyCharcot-Marie-Tooth disease type 3Charcot-Marie-Tooth disease intermediate typeCharcot-Marie-Tooth disease type 6Charcot-Marie-Tooth disease type 7Charcot-Marie-Tooth disease type 1Charcot-Marie-Tooth disease type 2Charcot-Marie-Tooth disease type 4polyneuropathy-hand defect syndromeDejerine–Sottas diseaseacute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeCharcot-Marie-Tooth disease X-linked dominant 6Charcot-Marie-Tooth disease X-linked recessive 2Charcot-Marie-Tooth disease X-linked dominant 1Charcot-Marie-Tooth disease X-linked recessive 5Charcot-Marie-Tooth disease X-linked recessive 3Charcot-Marie-Tooth disease X-linked recessive 4Charcot-Marie-Tooth disease type 2B1Charcot-Marie-Tooth disease type 2RCharcot-Marie-Tooth disease axonal type 2HCharcot-Marie-Tooth disease axonal type 2PCharcot-Marie-Tooth disease axonal type 2SCharcot-Marie-Tooth disease axonal type 2Xsevere early-onset axonal neuropathy due to NEFL deficiencymicrocephaly-complex motor and sensory axonal neuropathy syndromesevere early-onset axonal neuropathy due to MFN2 deficiencyhereditary motor and sensory neuropathy with acrodystrophyCharcot-Marie-Tooth disease type 1GCharcot-Marie-Tooth disease type 1DCharcot-Marie-Tooth disease type 2DDCharcot-Marie-Tooth disease type 2A1Charcot-Marie-Tooth disease type 2A2Charcot-Marie-Tooth disease type 2JCharcot-Marie-Tooth disease type 2ICharcot-Marie-Tooth disease type 2BCharcot-Marie-Tooth disease, axonal type 2W

+16

Where this came from

wikidata · CC0 1.0

Source repository Registry entry point

Drafted structure

Bundle to layer to finding to question, as the second pass will find it: 4 bundles · 8 layers · 8 findings · 16 questions.

Help Care first.

Safety.

Symptoms

Symptoms.

Symptoms

Symptoms.

  1. Why do progressive foot weakness, high arches, frequent tripping or numbness need assessment by a neurologist? action
  2. Is the user asking about their own or a family member s symptoms or genetic results, which needs a clinician or genetic counsellor? boundary

Support

Support.

Support

Support.

  1. What patient organisations and supports exist for people with Charcot-Marie-Tooth disease? provenance
  2. Which entry fits the specific organisation? action
Understand The disease.

Clinical.

Classification

Classification.

Classification

Classification.

  1. How is Charcot-Marie-Tooth disease classified into types 1, 2, 3, 4, X-linked and syndromic forms? definition
  2. Is the question about the inherited disease or an acquired neuropathy? boundary

Genetics

Genetics.

Genetics

Genetics.

  1. Which genes and inheritance patterns cause the disease, in general terms? definition
  2. Which entry fits the specific type or gene? action
Care Diagnosis and management.

Clinical.

Diagnosis

Diagnosis.

Diagnosis

Diagnosis.

  1. How is the disease diagnosed by examination, nerve conduction studies and genetic testing? provenance
  2. Which references are standard? provenance

Management

Management.

Management

Management.

  1. How is the disease managed with physiotherapy, orthotics, surgery and medication precautions, in general terms? provenance
  2. Which sources are cited? provenance
Context Research and history.

Context.

Research

Research.

Research

Research.

  1. What research and trials address treatments for Charcot-Marie-Tooth disease, with findings attributed? provenance
  2. Which entry fits gene therapy for neuropathy? action

History

History.

History

History.

  1. How did Charcot, Marie and Tooth describe the disease in 1886, and how has classification evolved? provenance
  2. Which entry fits the history of neurology? action

What the second pass must settle

  • Should the main types be separate primary entries?
  • How should neurology and genetics sources be linked?
  • The registry entry has merged aliases naming subtypes and syndromes; should they be split off?
Draft as JSON