Spinal muscular atrophy with respiratory distress type 1
Synonyms: Autosomal recessive distal spinal muscular atrophy type 1 | Autosomal recessive spinal muscular atrophy with respiratory distress | Diaphragmatic spinal muscular atrophy | Distal hereditary motor neuropathy type 6 | Distal-HMN type 6 | SIANRF | SMARD1 | Severe infantile axonal neuropathy with respiratory failure type 1 | dHMN6 | dSMA1
Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy as well as progressive symmetrical distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation low birth weight feeble cry weak suck and failure to thrive and present with inspiratory stridor recurrent episodes of dyspnea or apnea cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis foot deformities and joint contractures are frequently associated features.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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