An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Rare congenital neuromuscular disorder

Property Value
dbo:complications
  • Scoliosis,joint contractures,pneumonia
dbo:description
  • enfermedad (es)
  • مرض يصيب الإنسان (ar)
  • vrozená vada nervové soustavy (cs)
  • 脊髄の運動ニューロン(脊髄前角細胞)の病変によって起こる 神経原性の筋萎縮を起こす先天性遺伝子疾患 (ja)
  • рідкісне нервово-м'язове захворювання (uk)
  • autosomal rezessiv vererbte Krankheit (de)
  • groupe de maladies héréditaires (fr)
  • rare congenital neuromuscular disorder (en)
  • Поражение спинного мозга, приводящее к атрофии многих мышц (ru)
  • σχετικά σπάνια γενετική νευρομυική διαταραχή (el)
  • ଏହି ରୋଗରେ ମାଂସପେଶୀ କ୍ଷୟ ହୁଏ । (or)
  • nadir görülen konjenital nöromüsküler bozukluk (tr)
  • یک بیماری عصبی-عضلانی (fa)
  • rzadka choroba nerwowo-mięśniowa o podłożu genetycznym (pl)
  • 神经疾病 (zh)
  • malattia che colpisce le cellule nervose delle corna anteriori del midollo spinale da cui partono i nervi diretti ai muscoli, e che trasmettono i segnali motori (detti anche motoneuroni) (it)
dbo:differentialDiagnosis
dbo:diseasesDB
  • 14093
dbo:geneReviewsId
  • NBK1352
dbo:geneReviewsName
  • Spinal Muscular Atrophy (en)
dbo:icd10
  • -
  • G12.0
  • G12.1
dbo:icd9
  • -
  • 335.0
  • 335.1
dbo:medicalCause
dbo:medicalDiagnosis
dbo:medication
dbo:medlinePlus
  • 000996
dbo:meshId
  • D014897
dbo:omim
  • 253300 (xsd:integer)
dbo:thumbnail
dbo:treatment
dbo:wikiPageExternalLink
dbo:wikiPageWikiLink
dbp:caption
  • Location of neurons affected by spinal muscular atrophy in the spinal cord (en)
dbp:causes
  • Mutation in SMN1 (en)
dbp:complications
  • Scoliosis, joint contractures, pneumonia (en)
dbp:diagnosis
dbp:differential
dbp:diseasesdb
  • 14093 (xsd:integer)
dbp:duration
  • Lifelong (en)
dbp:field
dbp:frequency
  • 1 (xsd:integer)
dbp:genereviewsname
  • Spinal Muscular Atrophy (en)
dbp:genereviewsnbk
  • NBK1352 (en)
dbp:icd
  • 335 (xsd:integer)
  • 335.100000 (xsd:double)
  • (en)
  • - (en)
  • G12.0 (en)
  • G12.1 (en)
dbp:medication
dbp:medlineplus
  • 996 (xsd:integer)
dbp:meshid
  • D014897 (en)
dbp:name
  • Spinal muscular atrophy (en)
dbp:omim
  • 253300 (xsd:integer)
dbp:onset
  • Mutation is congenital; symptom start varies by type (en)
dbp:prognosis
  • Varies by type (en)
dbp:symptoms
  • Progressive muscle weakness (en)
dbp:synonyms
  • Autosomal recessive proximal spinal muscular atrophy, 5q spinal muscular atrophy (en)
dbp:treatment
  • Supportive care, medications (en)
dbp:types
  • Type 0 to type 4 (en)
dbp:wikiPageUsesTemplate
dbp:wordnet_type
dct:subject
gold:hypernym
rdf:type
rdfs:label
  • Spinal muscular atrophy (en)
  • Atròfia muscular espinal (ca)
  • Spinální svalová atrofie (cs)
  • ضمور العضلات الشوكي (ar)
  • Νωτιαία μυϊκή ατροφία (el)
  • Atrofia muscular espinal (es)
  • Syndrome de Kugelberg-Welander (fr)
  • Spinale Muskelatrophie (de)
  • Amyotrophie spinale (fr)
  • Sindrome di Wohlfart-Kugelberg-Welander (it)
  • Atrofia muscolare spinale (it)
  • 척수성 근위축증 (ko)
  • 脊髄性筋萎縮症 (ja)
  • Atrofia muscular espinhal (pt)
  • Rdzeniowy zanik mięśni (pl)
  • Spinale musculaire atrofie (nl)
  • Spinal muskelatrofi (sv)
  • Спинальная мышечная атрофия (ru)
  • Спінальна м'язова атрофія (uk)
  • 脊髓性肌肉萎縮症 (zh)
owl:sameAs
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • Spinal muscular atrophy (en)
is dbo:knownFor of
is dbo:medicalCause of
is dbo:wikiPageDisambiguates of
is dbo:wikiPageRedirects of
is dbo:wikiPageWikiLink of
is dbp:disability of
is dbp:knownFor of
is foaf:primaryTopic of
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