spinal muscular atrophy with respiratory distress type 2
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.
MONDO:0001516
spinal muscular atrophy
is_a
SMARD2
exact
X-linked spinal muscular atrophy with respiratory distress
exact
diaphragmatic spinal muscular atrophy type 2
exact
severe infantile axonal neuropathy with respiratory failure type 2
exact