Spinal muscular atrophy with respiratory distress 1

A hereditary autosomal recessive form of infantile spinal muscular atrophy characterized by severe respiratory distress resulting from diaphragmatic paralysis resulting in respiratory failure between 6 weeks and 6 months, DIAPHRAGMATIC EVENTRATION shown on chest x-ray or PREMATURE BIRTH, and predominant involvement of the upper limbs and distal muscles. Mutations in the IGHMBP2 gene have been identified. OMIM: 604320

Also Known As:

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; Neuronopathy, Distal Hereditary Motor, Type VI; Neuronopathy, Severe Infantile Axonal, With Respiratory Failure; Severe Infantile Axonal Neuropathy With Respiratory Failure; Sianrf; Smard1; Spinal Muscular Atrophy with Respiratory Distress; Spinal Muscular Atrophy with Respiratory Distress Type 1; Spinal Muscular Atrophy, Diaphragmatic; Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Motor Neuron Disease: 1851
    - Spinal Muscular Atrophy: 2346
      - Spinal muscular atrophy with respiratory distress 1: 58
- Central Nervous System Diseases: 4371
  - Spinal Cord Diseases: 4420
    - Spinal Muscular Atrophy: 2346
      - Spinal muscular atrophy with respiratory distress 1: 58
- Neuromuscular Diseases: 2048
  - Motor Neuron Disease: 1851
    - Spinal Muscular Atrophy: 2346
      - Spinal muscular atrophy with respiratory distress 1: 58
Respiratory Tract Diseases: 6273
- Lung Diseases: 22701
  - Respiratory Distress Syndrome: 16154
    - Newborn Respiratory Distress Syndrome: 677
      - Spinal muscular atrophy with respiratory distress 1: 58
- Respiration Disorders: 18
  - Respiratory Distress Syndrome: 16154
    - Newborn Respiratory Distress Syndrome: 677
      - Spinal muscular atrophy with respiratory distress 1: 58
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Diseases Newborn Infant: 271
  - Diseases Premature Infant: 1
    - Newborn Respiratory Distress Syndrome: 677
      - Spinal muscular atrophy with respiratory distress 1: 58

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