Lethal arthrogryposis with anterior horn cell disease: Difference between revisions
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{{Infobox medical condition (new) |
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| synonyms = Vuopala disease |
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| image = Autosomal recessive - en.svg |
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==Presentation== |
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LAAHD resembles [[Lethal congenital contracture syndrome|LCCS1]] disease but the [[phenotype]] is milder, with survival beyond 32nd gestational week. However, the foetuses are often [[stillbirth|stillborn]] or survive only few minutes. The movements of the foetus during pregnancy are scanty and stiff, often only in upper limbs. The malpositions are [[distal]]. The inwards spiral and especially the elbow [[contractures]] are less severe than in LCCS1 disease. Some patients have intrauterine long bone fractures. Skeletal muscles are affected and show [[neurogenic]] [[atrophy]]. The size and shape of spinal cord at different levels are normal but anterior horn [[motoneurons]] are diminished in number and degenerated.<ref name="vuopala">{{cite journal |
LAAHD resembles [[Lethal congenital contracture syndrome|LCCS1]] disease but the [[phenotype]] is milder, with survival beyond 32nd gestational week. However, the foetuses are often [[stillbirth|stillborn]] or survive only few minutes. The movements of the foetus during pregnancy are scanty and stiff, often only in upper limbs. The malpositions are [[Anatomical terms of location#Proximal and distal|distal]]. The inwards spiral and especially the elbow [[contractures]] are less severe than in LCCS1 disease. Some patients have intrauterine long bone fractures. Skeletal muscles are affected and show [[neurogenic]] [[atrophy]]. The size and shape of spinal cord at different levels are normal but anterior horn [[motoneurons]] are diminished in number and degenerated.<ref name="vuopala">{{cite journal|vauthors=Vuopala K, Ignatius J, Herva R | title = Lethal arthrogryposis with anterior horn cell disease| journal = Hum Pathol| volume = 26| issue = 1| pages = 12–19| year = 1995| pmid = 7821908| doi = 10.1016/0046-8177(95)90109-4}}</ref> |
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| author = Vuopala K, Ignatius J, Herva R |
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| journal = Hum Pathol |
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| volume = 26 |
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| issue = 1 |
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| pages = 12–19 |
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| year = 1995 |
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| month = |
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| pmid = |
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7821908| doi = |
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10.1016/0046-8177(95)90109-4| url = |
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| issn = |
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}}</ref> |
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==Molecular genetics== |
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| ⚫ | LAAHD disease results from compound heterozygosity of GLE1FinMajor and a missense point mutation in exon 13 (6 cases in 3 families) or a missense mutation in exon 16 ( seven cases in 3 families). One of the latter cases survived 12 weeks, mostly under artificial respiration.<ref name="nousiainen">{{cite journal|vauthors=Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L | title = Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease| journal = Nature Genetics| volume = 40| issue = 2| pages = 155–157|date=February 2008| pmid = 18204449| pmc = 2684619| doi = 10.1038/ng.2007.65}}</ref> |
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==Diagnosis== |
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{{Empty section|date=July 2017}} |
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==Treatment== |
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{{Empty section|date=July 2017}} |
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==Epidemiology== |
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==Molecular genetics== |
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| ⚫ | LAAHD disease results from compound heterozygosity of GLE1FinMajor and a missense point mutation in exon 13 (6 cases in 3 families) or a missense mutation in exon 16 ( seven cases in 3 families). One of the latter cases survived 12 weeks, mostly under artificial respiration.<ref name="nousiainen">{{cite journal |
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| author = Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L |
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| title = Mutations in mRNA export mediator gene GLE1 result in a fetal motoneuron disease |
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| journal = Nature Genetics |
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| volume = 40 |
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| issue = 2 |
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| pages = 155–157 |
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| year = 2008 |
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| month = February |
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| pmid = |
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18204449 |
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| pmc = 2684619| doi = |
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10.1038/ng.2007.65| url = |
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| issn = |
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}}</ref> |
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==References== |
==References== |
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<references/> |
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== External links == |
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{{Medical resources |
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| ICD10 = <!--{{ICD10|Xxx.x}}--> |
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| ICD9 = <!--{{ICD9|xxx}}--> |
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| ICDO = |
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| OMIM = 611890 |
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| DiseasesDB = |
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| MedlinePlus = |
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| eMedicineTopic = |
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| MeSH = |
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| GeneReviewsNBK = |
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| Orphanet = 53696 |
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}} |
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[[Category:Rare diseases]] |
[[Category:Rare diseases]] |
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[[Category:Genetic disorders with no OMIM]] |
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[[fi:Vuopalan tauti]] |
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Latest revision as of 06:21, 3 November 2023
| Lethal arthrogryposis with anterior horn cell disease | |
|---|---|
| Other names | Vuopala disease |
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| Lethal arthrogryposis with anterior horn cell disease is inherited in an autosomal recessive manner | |
Lethal arthrogryposis with anterior horn cell disease (LAAHD) is an autosomal recessive genetic disorder characterized by reduced mobility of the foetus and early death.
Presentation
[edit]LAAHD resembles LCCS1 disease but the phenotype is milder, with survival beyond 32nd gestational week. However, the foetuses are often stillborn or survive only few minutes. The movements of the foetus during pregnancy are scanty and stiff, often only in upper limbs. The malpositions are distal. The inwards spiral and especially the elbow contractures are less severe than in LCCS1 disease. Some patients have intrauterine long bone fractures. Skeletal muscles are affected and show neurogenic atrophy. The size and shape of spinal cord at different levels are normal but anterior horn motoneurons are diminished in number and degenerated.[1]
Molecular genetics
[edit]LAAHD disease results from compound heterozygosity of GLE1FinMajor and a missense point mutation in exon 13 (6 cases in 3 families) or a missense mutation in exon 16 ( seven cases in 3 families). One of the latter cases survived 12 weeks, mostly under artificial respiration.[2]
Diagnosis
[edit]![[icon]](/https/en.wikipedia.org/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (July 2017) |
Treatment
[edit] | This section is empty. You can help by adding to it. (July 2017) |
Epidemiology
[edit]LAAHD is one of approximately 40 Finnish heritage diseases. Families affected by these diseases come from different parts of Finland, and birthplaces of the ancestors of affected individuals do not show geographic clustering.[citation needed]
References
[edit]- ^ Vuopala K, Ignatius J, Herva R (1995). "Lethal arthrogryposis with anterior horn cell disease". Hum Pathol. 26 (1): 12–19. doi:10.1016/0046-8177(95)90109-4. PMID 7821908.
- ^ Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L (February 2008). "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease". Nature Genetics. 40 (2): 155–157. doi:10.1038/ng.2007.65. PMC 2684619. PMID 18204449.