Spinal muscular atrophy with respiratory distress type 2

Også kjent som: SMA med resp. Vansker type 2, SMARD 2
Engelsk navn: Spinal muscular atrophy with respiratory distress type 2
Engelske synonym: Diaphragmatic spinal muscular atrophy type 2,SMARD2,Severe infantile axonal neuropathy with respiratory failure type 2,X-linked spinal muscular atrophy with respiratory distress


Definisjon

Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.

Fra Orphanet

ORPHA: 404521
Klassifiseringsnivå: Disorder
ICD-10: G12.2

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