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.

Aliases (4)

SMA ×1
spinal muscular atrophy type 3 ×1
spinal muscular atrophy type 4 ×1
spinal muscular atrophy with respiratory distress type 1 ×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 → surface form: "spinal muscular atrophy type 3" spinal muscular atrophy → surface form: "spinal muscular atrophy type 4" spinal muscular atrophy with lower extremity predominance → spinal muscular atrophy → 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 (5)

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

spinal muscular atrophy → alsoKnownAs → spinal muscular atrophy →

this entity surface form: "SMA"

Biogen → hasKeyTherapeuticArea → spinal muscular atrophy →

spinal muscular atrophy → hasSubtype → spinal muscular atrophy →

this entity surface form: "spinal muscular atrophy type 3"

spinal muscular atrophy → hasSubtype → spinal muscular atrophy →

this entity surface form: "spinal muscular atrophy type 4"

spinal muscular atrophy → hasSubtype → spinal muscular atrophy →

this entity surface form: "spinal muscular atrophy with respiratory distress type 1"