spinal muscular atrophy

E24880
autosomal recessive disease genetic disorder motor neuron disease neuromuscular disease

Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.

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All labels observed (6)

Label Occurrences
spinal muscular atrophy canonical 2
SMA 1
spinal muscular atrophy type 3 1

Statements (58)

Predicate Object
instanceOf autosomal recessive disease ⓘ
genetic disorder ⓘ
motor neuron disease ⓘ
neuromuscular disease ⓘ
affects brainstem motor nuclei ⓘ
motor neurons in the anterior horn of the spinal cord ⓘ
alsoKnownAs spinal muscular atrophy ⓘ
surface form: SMA
characterizedBy areflexia or reduced deep tendon reflexes ⓘ
bulbar dysfunction in severe cases ⓘ
hypotonia ⓘ
muscle atrophy ⓘ
progressive muscle weakness ⓘ
proximal muscle weakness ⓘ
respiratory muscle weakness ⓘ
diagnosedBy clinical evaluation of motor milestones ⓘ
electromyography ⓘ
measurement of SMN1 copy number ⓘ
molecular genetic testing of SMN1 gene ⓘ
nerve conduction studies ⓘ
hasCarrierFrequency approximately 1 in 40 to 1 in 60 in many populations ⓘ
hasCause deficiency of survival motor neuron protein ⓘ
mutation in SMN1 gene ⓘ
hasComplication failure to thrive in infants ⓘ
feeding difficulties ⓘ
joint contractures ⓘ
recurrent respiratory infections ⓘ
respiratory failure ⓘ
scoliosis ⓘ
hasModeOfInheritance autosomal recessive ⓘ
hasPrevalence approximately 1 in 6,000 to 1 in 10,000 live births ⓘ
hasPrognosis variable depending on type and age of onset ⓘ
hasRiskFactor family history of spinal muscular atrophy ⓘ
hasSubtype spinal muscular atrophy type 0 ⓘ
spinal muscular atrophy type 1 ⓘ
spinal muscular atrophy type 2 ⓘ
spinal muscular atrophy self-linksurface differs ⓘ
surface form: spinal muscular atrophy type 3

spinal muscular atrophy self-linksurface differs ⓘ
surface form: spinal muscular atrophy type 4

spinal muscular atrophy with lower extremity predominance ⓘ
spinal muscular atrophy self-linksurface differs ⓘ
surface form: spinal muscular atrophy with respiratory distress type 1
hasTypicalOnset adulthood ⓘ
childhood ⓘ
infancy ⓘ
locatedIn lower motor neuron system ⓘ
spinal cord ⓘ
preventedBy carrier screening in prospective parents ⓘ
preimplantation genetic testing ⓘ
prenatal genetic diagnosis ⓘ
regulatedBy SMN2 gene copy number modifying disease severity ⓘ
spares cognitive function ⓘ
sensory neurons ⓘ
treatedBy Spinraza ⓘ
surface form: nusinersen

nutritional support ⓘ
occupational therapy ⓘ
onasemnogene abeparvovec ⓘ
orthopedic interventions for scoliosis and contractures ⓘ
physical therapy ⓘ
risdiplam ⓘ
supportive respiratory care ⓘ

Referenced by (7)

Full triples — surface form annotated when it differs from this entity's canonical label.

Biogen → hasKeyTherapeuticArea → spinal muscular atrophy ⓘ
spinal muscular atrophy → hasSubtype → spinal muscular atrophy self-linksurface differs ⓘ
this entity surface form: spinal muscular atrophy type 3
spinal muscular atrophy → hasSubtype → spinal muscular atrophy self-linksurface differs ⓘ
this entity surface form: spinal muscular atrophy type 4
spinal muscular atrophy → hasSubtype → spinal muscular atrophy self-linksurface differs ⓘ
this entity surface form: spinal muscular atrophy with respiratory distress type 1
spinal muscular atrophy → alsoKnownAs → spinal muscular atrophy ⓘ
this entity surface form: SMA
survival motor neuron protein → associatedWithDisease → spinal muscular atrophy ⓘ
subject surface form: Survival motor neuron protein
survival motor neuron protein → associatedWithDisease → spinal muscular atrophy ⓘ
subject surface form: Survival motor neuron protein
this entity surface form: spinal muscular atrophy type II