202 top medical experts on Spinal muscular atrophy with respiratory distress 1 across 16 countries and 5 U.S. states, including 19 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Spinal muscular atrophy with respiratory distress 1: 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations

Organizations Providing General Support

  • Synonyms: Autosomal Recessive Distal Spinal Muscular Atrophy 1,  Dhmn6,  Diaphragmatic Spinal Muscular Atrophy,  Distal Hereditary Motor Neuronopathy Type Vi,  Distal Spinal Muscular Atrophy Type 1,  Dsma1,  Hmn6,  Hmnvi,  Type VI Distal Hereditary Motor Neuronopathy,  With Respiratory Failure Severe Infantile Axonal Neuronopathy,  Severe Infantile Axonal Neuropathy With Respiratory Failure,  Sianrf,  Smard1,  Spinal Muscular Atrophy with Respiratory Distress,  Spinal Muscular Atrophy with Respiratory Distress Type 1,  Diaphragmatic Spinal Muscular Atrophy,  1 Autosomal Recessive Distal Spinal Muscular Atrophy


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