Spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. It may also appear later in life and then have a milder course of the disease. The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures.
differential diagnosis
known for
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5q spinal muscular atrophyAdult Spinal Muscular AtrophyAdult spinal muscular atrophyDubowitz diseaseHoffmann's syndromeHoffmann syndromeInfantile spinal muscular atrophyJuvenile Spinal Muscular AtrophyKugelberg-Welander diseaseKugelberg-Welander syndromeKugelberg–Welander diseaseMuscular atrophy, spinalProximal spinal muscular atrophyRG3039SMA0SMA1SMA2SMA3Spinal Muscular AtrophySpinal muscular atrophies of childhoodSpinal muscular atrophy type 0Spinal muscular atrophy type 1Spinal muscular atrophy type 2Spinal muscular atrophy type 3Spinal muscular atrophy type 4Survival motor neuron spinal muscular atrophyWerdnig-Hoffman diseaseWerdnig-Hoffman syndromeWerdnig-Hoffmann diseaseWerdnig-Hoffmann syndromeWerdnig–Hoffman diseaseWerdnig–Hoffman syndromeWerdnig–Hoffmann diseaseWerdnig–Hoffmann syndrome
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2021 in the United Kingdom39 Pounds of Love5q spinal muscular atrophy97 SecondsANKRD1AccomableAdeno-associated virusAdrian R. KrainerAdult Spinal Muscular AtrophyAdult spinal muscular atrophyAgostino Gemelli University PoliclinicAlberto KornblihttAlex FridmanAlexa DectisAlice Wong (activist)Amyotrophic lateral sclerosisAndrea BallabioAnkle jerk reflexAnterior horn diseaseAntisense therapyAstellas PharmaAugustBarbara Waxman FiducciaBiogenBraden DannerBranaplamBraunAbilityBreech birthBronson CrothersBrown Swiss cattleC. Frank BennettCHODLCarrier testingCeftriaxoneCell-free fetal DNACentronuclear myopathyCharlotte SumnerChecco ZaloneChris Pappas (Neighbours)Chromosome 5
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Spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. It may also appear later in life and then have a milder course of the disease. The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures.
has abstract
Atrofia muscular espinhal (AME ...... 1 em cada 10 000 nascimentos.
@pt
L'amyotrophie spinale est le n ...... antisens, thérapie génique...)
@fr
L'atrofia muscolare spinale (S ...... utante o autosomica dominante.
@it
L'atròfia muscular espinal (si ...... atròfia i debilitat muscular.
@ca
La atrofia muscular espinal (A ...... la función de la proteína SMN.
@es
Rdzeniowy zanik mięśni (ang. s ...... maju 2017 w Unii Europejskiej.
@pl
Spinal muscular atrophy (SMA) ...... entions, and mobility support.
@en
Spinala muskelatrofier (SMA) ä ...... n likartade inom samma familj.
@sv
Spinale musculaire atrofie (SM ...... akst voorkomende vorm van SMA.
@nl
Spinální svalová atrofie (angl ...... MA III) 4.
* adultní (SMA IV)
@cs
complications
Scoliosis,joint contractures,pneumonia
differential diagnosis
DiseasesDB
geneReviewsId
geneReviewsName
Spinal Muscular Atrophy
@en
ICD10
ICD9
medical diagnosis
MedlinePlus
MeSH ID
OMIM id
treatment
Wikipage page ID
page length (characters) of wiki page
Wikipage revision ID
1,026,229,748
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caption
Location of neurons affected by spinal muscular atrophy in the spinal cord
@en
causes
Mutation in SMN1
@en
complications
Scoliosis, joint contractures, pneumonia
@en
diagnosis
DiseasesDB
field
frequency
GeneReviewsName
Spinal Muscular Atrophy
@en
GeneReviewsNBK
NBK1352
@en
ICD
@en
-
@en
G12.0
@en
G12.1
@en
MedlinePlus
MeshID
D014897
@en
name
Spinal muscular atrophy
@en
OMIM
prognosis
Varies by type
@en
symptoms
Progressive muscle weakness
@en
synonyms
Autosomal recessive proximal spinal muscular atrophy, 5q spinal muscular atrophy
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treatment
Supportive care, medications
@en
types
Type 0 to type 4
@en
wikiPageUsesTemplate
wordnet_type
subject
hypernym
comment
Atrofia muscular espinhal (AME ...... as de morte em recém-nascidos.
@pt
L'amyotrophie spinale est le n ...... antisens, thérapie génique...)
@fr
L'atrofia muscolare spinale (S ...... ori (dette anche motoneuroni).
@it
L'atròfia muscular espinal (si ...... atròfia i debilitat muscular.
@ca
La atrofia muscular espinal (A ...... álico y de la médula espinal.
@es
Rdzeniowy zanik mięśni (ang. s ...... maju 2017 w Unii Europejskiej.
@pl
Spinal muscular atrophy (SMA) ...... iosis, and joint contractures.
@en
Spinala muskelatrofier (SMA) ä ...... n likartade inom samma familj.
@sv
Spinale musculaire atrofie (SM ...... zijn drie verschillende typen:
@nl
Spinální svalová atrofie (angl ...... MA III) 4.
* adultní (SMA IV)
@cs
label
Amyotrophie spinale
@fr
Atrofia muscolare spinale
@it
Atrofia muscular espinal
@es
Atrofia muscular espinhal
@pt
Atròfia muscular espinal
@ca
Rdzeniowy zanik mięśni
@pl
Spinal muscular atrophy
@en
Spinal muskelatrofi
@sv
Spinale Muskelatrophie
@de
Spinale musculaire atrofie
@nl