About: Spinal muscular atrophies

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Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. While some SMAs lead to early infant death, other diseases of this group permit normal adult life with only mild weakness.

Attributes	Values
rdf:type	Thing Disease yago:WikicatNeurologicalDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:NervousDisorder114084880 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders yago:WikicatGeneticDisordersBySystem disease yago:State100024720
rdfs:label	Zaniki mięśni pochodzenia rdzeniowego (pl) Spinal muscular atrophies (en)
rdfs:comment	Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. While some SMAs lead to early infant death, other diseases of this group permit normal adult life with only mild weakness. (en) Zaniki mięśni pochodzenia rdzeniowego – zróżnicowana klinicznie i genetycznie grupa chorób rzadkich, których cechą wspólną jest degeneracja neuronów ruchowych i postępujące upośledzenie różnych grup mięśniowych w organizmie. (pl)
foaf:name	Spinal muscular atrophies (en)
name	Spinal muscular atrophies (en)
foaf:depiction
dct:subject	Motor neuron diseases Systemic atrophies primarily affecting the central nervous system Spinal muscular atrophy Genetic diseases and disorders Genetic disorders by system Neurological disorders
Wikipage page ID	423910 (xsd:integer)
Wikipage revision ID	1098410816 (xsd:integer)
Link from a Wikipage to another Wikipage	BICD2 Muscle HSPB8 Monomelic amyotrophy Prevalence X-linked spinal muscular atrophy type 2 DNAJB2 Arthrogryposis multiplex congenita GARS (gene) Motor neuron diseases Systemic atrophies primarily affecting the central nervous system Neuron Sensory nerve PLEKHG5 Chromosome 19 Gene Genetic mutation Motor neuron disease Congenital distal spinal muscular atrophy TRPV4 Anterior horn of spinal cord Progressive muscular atrophy Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower extremity predominance 2A Spinal muscular atrophy with lower extremity predominance 2B SMN1 Autosomal dominant Autosomal recessive Spinal muscular atrophy Distal hereditary motor neuronopathies Distal spinal muscular atrophy type 1 Distal spinal muscular atrophy type 2 DYNC1H1 Jokela type spinal muscular atrophy Locus (genetics) Anatomical terms of location Genetic diseases and disorders Chromosome 1 Chromosome 10 Chromosome 11 Chromosome 12 Chromosome 14 Chromosome 15 Chromosome 18 Chromosome 2 Chromosome 20 Chromosome 22 Chromosome 5 Chromosome 7 Chromosome 8 Chromosome 9 Thoracic diaphragm Hereditary motor neuropathies Posterior horn of spinal cord ASAH1 ASCC1 ATP7A Hereditary spastic paraplegia Genetic disorders by system Neurological disorders Charcot–Marie–Tooth disease Heredity X chromosome Distal hereditary motor neuropathies CHCHD10 Spinal muscular atrophy IGHMBP2

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