Spinal muscular atrophy with respiratory distress type 2

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Spinal muscular atrophy with respiratory distress type 2

Synonyms: Diaphragmatic spinal muscular atrophy type 2 | SMARD2 | Severe infantile axonal neuropathy with respiratory failure type 2 | X-linked spinal muscular atrophy with respiratory distress

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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