MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandanterior horn disease (MONDO:0003182)
Parent Node:
expandmotor neuron disease (MONDO:0020128)
Parent Node:
expandmyopathy (MONDO:0005336)
..Starting node
..expandspinal muscular atrophy ()

       Child Nodes:
........expandautosomal dominant congenital benign spinal muscular atrophy ()
........expandautosomal recessive distal spinal muscular atrophy 1 ()
........expandautosomal recessive distal spinal muscular atrophy 2 ()
........expandbulbospinal muscular atrophy ()
........expanddistal spinal muscular atrophy type 3 ()
........expandinfantile-onset X-linked spinal muscular atrophy ()
........expandproximal spinal muscular atrophy ()
........expandspinal muscular atrophy, facioscapulohumeral type ()
........expandspinal muscular atrophy, Ryukyuan type ()
........expandspinal muscular atrophy, scapuloperoneal ()
........expandspinal muscular atrophy, segmental ()
........expandX-linked distal spinal muscular atrophy type 3 ()
........expandyoung adult-onset distal hereditary motor neuropathy ()



 Sister Nodes: 
..expandacute quadriplegic myopathy ()
..expandcongenital structural myopathy ()
..expandinfectious, fungal or parasitic myopathy ()
..expandmuscular atrophy ()
..expandmuscular dystrophy ()
..expandmyofascial pain syndrome ()
..expandmyoglobinuria ()
..expandmyopathy of extraocular muscle ()
..expandmyopathy with eye involvement ()
..expandmyopathy, lactic acidosis, and sideroblastic anemia ()
..expandmyositis ()
..expandnon-dystrophic myopathy ()
..expandpolyglucosan body myopathy ()
..expandpolymyalgia rheumatica ()
..expandspinal muscular atrophy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1516
Name:spinal muscular atrophy
Definition:Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1 , BICD2 , or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
Genes: GPD1L;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal