Admin med 8. sep. 2013, 13:38

2013-09-08T13:38:08Z

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			=Billeder=
			[[Fil:Charcot-marie-tooth foot.jpg]]

	[[Kategori:Dropfod]]		[[Kategori:Dropfod]]

Admin: /* Klassifikation */

2013-09-08T13:12:33Z

Klassifikation

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	=Klassifikation=		=Klassifikation=
	~~CMT is a result of genetic [[mutation]]s in a number of [[gene]]s. Based on the affected gene, CMT can be categorized into types and subtypes.<ref name="Lupski2010" />~~

	'''Clinical categories'''		'''Clinical categories'''

Admin: /* Klassifikation */

2013-09-08T13:11:55Z

Klassifikation

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Admin: Oprettede siden med '=Synonymer= CMT, neuropati, Charcot–Marie–Tooth disease, Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN), peroneal muscular atrophy (PMA)…'

2013-09-08T13:10:59Z

Oprettede siden med '=Synonymer= CMT, neuropati, Charcot–Marie–Tooth disease, Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN), peroneal muscular atrophy (PMA)…'

Ny side

=Synonymer=
CMT, neuropati, Charcot–Marie–Tooth disease, Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN), peroneal muscular atrophy (PMA)

=Beskrivelse=
Arvelig lidelse der rammer PNS med progressivt tab af muskelvæv og følesans

=Forekomst=
1:2500

=Symptomer=
Begynder som regel i den tidlige voksenalder men kan vente til 30-40 års alderen. Første symptom er som regel dropfod.

=Årsag=
Duplikation af en stor region på den korte arm af kromosom 17 (75% af CMT) som indeholder genet PMP22.

=Klassifikation=
CMT is a result of genetic [[mutation]]s in a number of [[gene]]s. Based on the affected gene, CMT can be categorized into types and subtypes.<ref name="Lupski2010" />

'''Clinical categories'''
{| class="wikitable" style="text-align: left;"
|-
! Type
! style="width:13em"|Name
! style="width:16em"|Incidence
! Notes
|-
| '''CMT1'''
| Demyelinating type
| Affects approximately 30% of CMT patients
| Causes severe [[demyelination]], thereby impairing [[nerve conduction velocity]].
|-
| '''CMT2'''
| Axonal type
| Affects approximately 20–40% of CMT patients
| Mainly affects [[axon]]s. Tends to affect lower extremities more than upper extremities. Clinical symptoms are often less severe than in CMT1. As it is an [[axonopathy]], average [[nerve conduction velocity]] is usually not affected (sometimes slightly below normal but mostly above 38 [[metre per second|m/s]]).
|-
| '''CMT3'''
| [[Dejerine-Sottas disease]]
| Very rare
| Does not impair [[nerve conduction velocity]].
|-
| '''CMT4'''
| Spinal type
|
|
|-
| '''CMT5'''
| Pyramidal type
|
|
|-
| '''CMT6'''
|
|
|
|-
| '''CMTDI'''
| Dominant intermediate type
|
|
|-
| '''CMTRI'''
| Recessive intermediate type
|
|
|-
| '''CMTX'''
| X-linked type
| Affects approximately 10–20% of CMT patients
| This type encompasses all CMT forms that are inherited in an [[X-linked]] manner. Average [[Nerve conduction velocity|NCV]]: 25–40 [[Metre per second|m/s]].
|-
|}

'''Genetic subtypes'''
{| class="wikitable" style="text-align: left;"
! Type
! Subtype
! [[OMIM]]
! [[Gene]]
! style="width:7em"|[[Locus (genetics)|Locus]]
! style="width:10em"|[[Heredity|Inheritance]]
! Notes
|-
| rowspan="6" | '''CMT1''' || CMT1A || {{OMIM2|118220}} || ''[[PMP22]]'' || 17p11.2 || [[Autosomal dominant]] || The most common form of the disease, 70–80% of Type 1 patients. Average [[Nerve conduction velocity|NCV]]: 20–25 [[Metre per second|m/s]]. Allelic with subtype CMT1E. When associated with subtype CMT1B (causing essential tremor and ataxia), it is called '''[[Roussy–Lévy syndrome]]'''.
|-
| CMT1B || {{OMIM2|118200}} || ''[[MPZ]]'' || 1q23.3 || [[Autosomal dominant]] || Responsible for 5–10% of Type 1 patients. Average [[Nerve conduction velocity|NCV]]: < 15 [[Metre per second|m/s]]
|-
| CMT1C || {{OMIM2|601098}} || ''[[LITAF]]'' || 16p13.13 || [[Autosomal dominant]] || Usually shows up in infancy. Average [[Nerve conduction velocity|NCV]]: 26–42 [[Metre per second|m/s]]. Symptoms are identical to CMT1A.
|-
| CMT1D || {{OMIM2|607678}} || ''[[EGR2]]'' || 10q21.3 || [[Autosomal dominant]] || Average [[Nerve conduction velocity|NCV]]: 15–20 [[m/s]]
|-
| CMT1E || {{OMIM2|118300}} || ''[[PMP22]]'' || 17p11.2 || [[Autosomal dominant]] || Characterised by [[demyelination]] and [[deafness|loss of hearing]]; allelic with subtype CMT1A
|-
| CMT1F || {{OMIM2|607734}} || ''[[NEFL]]'' || 8p21.2 || [[Autosomal dominant]] ||
|-
| rowspan="18" | '''CMT2''' || CMT2A1 || {{OMIM2|118210}} || ''[[KIF1B]]'' || 1p36.22 || [[Autosomal dominant]] ||
|-
| CMT2A2 || {{OMIM2|609260}} || ''[[MFN2]]'' || 1p36.22 || [[Autosomal dominant]] ||
|-
| CMT2B || {{OMIM2|600882}} || ''[[RAB7A]]'' ''[[RAB7B]]'' || 3q21.3 || [[Autosomal dominant]] ||
|-
| CMT2B1 || {{OMIM2|605588}} || ''[[LMNA]]'' || 1q22 || [[Autosomal recessive]] || A [[laminopathy]]
|-
| CMT2B2 || {{OMIM2|605589}} || ''[[MED25]]'' || 19q13.33 || [[Autosomal dominant]] ||
|-
| CMT2C || {{OMIM2|606071}} || ''[[TRPV4]]'' || 12q24.11 || [[Autosomal dominant]] || May cause vocal cord, diaphragm, and distal weakness
|-
| CMT2D || {{OMIM2|601472}} || ''[[GARS]]''|| 7p14.3 || [[Autosomal dominant]] || Symptoms are more severe in the upper extremities (hands), which is atypical for CMT
|-
| CMT2E || {{OMIM2|607684}} || ''[[NEFL]]'' || 8p21.2 || [[Autosomal dominant]] ||
|-
| CMT2F || {{OMIM2|606595}} || ''[[HSPB1]]'' || 7q11.23 || [[Autosomal dominant]] ||
|-
| CMT2G || {{OMIM2|608591}} || ? || 12q12–q13.3 || [[Autosomal dominant]] ||
|-
| CMT2H || {{OMIM2|607731}} || ''[[GDAP1]]'' || 8q21.11 || [[Autosomal dominant]] || Allelic with subtype CMT2K
|-
| CMT2I || {{OMIM2|607677}} || ''[[MPZ]]'' || 1q23.3 || [[Autosomal dominant]] || Allelic with subtype CMT2J and forms of CMT3
|-
| CMT2J || {{OMIM2|607736}} || ''[[MPZ]]'' || 1q23.3 || [[Autosomal dominant]] || Allelic with subtype CMT2I and forms of CMT3
|-
| CMT2K || {{OMIM2|607831}} || ''[[GDAP1]]'' || 8q21.11 || [[Autosomal dominant]] || Allelic with subtype CMT2H
|-
| CMT2L || {{OMIM2|608673}} || ''[[HSPB8]]'' || 12q24.23 || [[Autosomal dominant]] ||
|-
| CMT2M || {{OMIM2|606482}} || ''[[DNM2]]'' || 19p13.2 || [[Autosomal dominant]] || Full name: ''CMT2M, included''; more commonly classified as subtype CMTDIB
|-
| CMT2O || {{OMIM2|614228}} || ''[[DYNC1H1]]'' || 14q32.31 || [[Autosomal dominant]] || Allelic with [[spinal muscular atrophy with lower extremity predominance]]
|-
| CMT2P || {{OMIM2|614436}} || ''[[LRSAM1]]'' || 9q33.3 || [[Autosomal dominant]] [[Autosomal recessive]] || Juvenile or adult onset, slowly progressive
|-
| '''CMT3''' || CMT3 || {{OMIM2|145900}} || ''[[MPZ]]'' ''[[EGR2]]'' ''[[PMP22]]'' ''[[PRX (gene)|PRX]]'' || 1q23.3 10q21.3 17p12 19q13.2 || [[Autosomal dominant]] [[Autosomal recessive]] || More commonly known as '''[[Dejerine–Sottas disease]]'''; subtype CMT4F sometimes included here
|-
| rowspan="11" | '''CMT4''' || CMT4A || {{OMIM2|214400}} || ''[[GDAP1]]'' || 8q21.11 || [[Autosomal recessive]] || Allelic with subtype CMTRIA
|-
| CMT4B1 || {{OMIM2|601382}} || ''[[MTMR2]]'' || 11q21 || [[Autosomal recessive]] ||
|-
| CMT4B2 || {{OMIM2|604563}} || ''[[SBF2]]'' || 11p15.4 || [[Autosomal recessive]] ||
|-
| CMT4B3 || {{OMIM2|615284}} || ''[[SBF1]]'' || 22q13.33 || [[Autosomal recessive]] ||
|-
| CMT4C || {{OMIM2|601596}} || ''[[SH3TC2]]'' || 5q32 || [[Autosomal recessive]] || May lead to respiratory compromise
|-
| CMT4D || {{OMIM2|601455}} || ''[[NDRG1]]'' || 8q24.3 || [[Autosomal recessive]] || Characterised by [[demyelination]] and [[deafness|loss of hearing]]
|-
| CMT4E || {{OMIM2|605253}} || ''[[MPZ]]'' ''[[EGR2]]'' || 1q23.3 10q21.3 || [[Autosomal recessive]] || Also known as '''congenital hypomyelinating neuropathy'''; phenotype largely overlapping with subtype CMT4F
|-
| CMT4F || {{OMIM2|145900}} || ''[[PRX (gene)|PRX]]'' || 19q13.2 || [[Autosomal recessive]] || Phenotype largely overlapping with subtype CMT4E; may be the same as CMT3
|-
| CMT4G || {{OMIM2|605285}} || ''[[HK1]]'' || 10q22.1 || [[Autosomal recessive]] || Also known as '''Russe-type hereditary motor and sensory neuropathy''' (HMSNR); second most common cause of CMT in the Spanish [[Romani people|Roma]] population
|-
| CMT4H || {{OMIM2|609311}} || ''[[FGD4]]'' || 12p11.21 || [[Autosomal recessive]] ||
|-
| CMT4J || {{OMIM2|611228}} || ''[[FIG4]]'' || 6q21 || [[Autosomal recessive]] || Allelic to [[amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 11]]
|-
| '''CMT5''' || CMT5 || {{OMIM2|600361}} || ? || 4q34.3–q35.2 || [[Autosomal dominant]] || Also known as '''CMT with pyramidal features'''; onset in 2nd decade of life with [[distal]] muscle wasting, particularly in legs
|-
| '''CMT6''' || CMT6 || {{OMIM2|601152}} || ''[[MFN2]]'' || 1p36.22 || [[Autosomal dominant]] || Characterised by [[optic atrophy]], hence known also as '''CMT with optic atrophy'''
|-
| rowspan="5" | '''CMTDI''' || CMTDIA || {{OMIM2|606483}} || ? || 10q24.1–q25.1 || [[Autosomal dominant]] ||
|-
| CMTDIB || {{OMIM2|606482}} || ''[[DNM2]]'' || 19p13.2 || [[Autosomal dominant]] || Also classified as subtype CMT2M
|-
| CMTDIC || {{OMIM2|608323}} || ''[[YARS]]'' || 1p35.1 || [[Autosomal dominant]] ||
|-
| CMTDID || {{OMIM2|607791}} || ''[[MPZ]]'' || 1q23.3 || [[Autosomal dominant]] ||
|-
| CMTDIE || {{OMIM2|614455}} || ''[[INF2]]'' || 14q32.33 || [[Autosomal dominant]] ||
|-
| rowspan="2" | '''CMTRI''' || CMTRIA || {{OMIM2|608340}} || ''[[GDAP1]]'' || 8q21.11 || [[Autosomal recessive]] || Allelic with subtype CMT4A
|-
| CMTRIB || {{OMIM2|613641}} || ''[[KARS (gene)|KARS]]'' || 16q23.1 || [[Autosomal recessive]] ||
|-
| rowspan="5" | '''CMTX''' || CMTX1 || {{OMIM2|302800}} || ''[[GJB1]]'' || Xq13.1 || [[X-linked dominant]] || Responsible for approximately 90% of CMTX patients; some studies put this number significantly higher.<ref>{{cite journal |pages=38–42 |doi=10.1159/000117403 |title=New Mutations in the X-Linked Form of Charcot-Marie-Tooth Disease |year=1997 |last1=Latour |first1=Philippe |last2=Fabreguette |first2=Anne |last3=Ressot |first3=Catherine |last4=Blanquet-Grossard |first4=FranÇOise |last5=Antoine |first5=Jean-Christophe |last6=Calvas |first6=Patrick |last7=Chapon |first7=FranÇOise |last8=Corbillon |first8=Emmanuel |last9=Ollagnor |first9=Elisabeth |journal=European Neurology |volume=37 |pmid=9018031 |issue=1}}</ref><ref>{{cite book |first1=Charles K. |last1=Abrams |first2=John E. |last2=Rash |chapter=Connexins in the Nervous System |chapterurl=http://www.springerlink.com/content/978-1-59745-489-6#section=129548&page=1&locus=0 |editor1-last=Harris |editor1-first=Andrew |editor2-last=Locke |editor2-first=Darren |title=Connexins |publisher=Springer |year=2009 |location=New York |pages=323–57 |url=http://www.springer.com/978-1-934115-46-6 |doi=10.1007/978-1-59745-489-6_15 |isbn=978-1-934115-46-6}}</ref>
|-
| CMTX2 || {{OMIM2|302801}} || ''[[CMTX2]]'' || Xq22.2 || [[X-linked recessive]] ||
|-
| CMTX3 || {{OMIM2|302802}} || ''[[CMTX3]]'' || Xq26 || [[X-linked recessive]] ||
|-
| CMTX4 || {{OMIM2|310490}} || ''[[NAMSD]]'' || Xq24–q26.1 || [[X-linked recessive]] || Also known as '''Cowchock syndrome'''
|-
| CMTX5 || {{OMIM2|311070}} || ''[[PRPS1]]'' || Xq22.3 || [[X-linked recessive]] || Also known as '''Rosenberg–Chutorian syndrome'''; signs include [[optic atrophy]], [[polyneuropathy]] and [[deafness]]
|-
! Type
! Subtype
! [[OMIM]]
! [[Gene]]
! [[Locus (genetics)|Locus]]
! [[Heredity|Inheritance]]
! Notes
|}

It has to be kept in mind that sometimes a particular patient diagnosed with CMT can exhibit a combination of any of the above gene mutations; thus, in these cases precise classification can be a little arbitrary.

[[Kategori:Dropfod]]

Charcot–Marie–Tooths sygdom - Versionshistorie

Admin med 8. sep. 2013, 13:38

Admin: /* Klassifikation */

Admin: /* Klassifikation */

Admin: Oprettede siden med '=Synonymer= CMT, neuropati, Charcot–Marie–Tooth disease, Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN), peroneal muscular atrophy (PMA)…'