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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
Networked: 54 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Spinal muscular atrophy with respiratory distress 1
2. Motor Neuron Disease (Primary Lateral Sclerosis)
3. Muscle Weakness
4. Spinal Muscular Atrophy (Progressive Muscular Atrophy)
5. Respiratory Paralysis

Experts

1. Corti, Stefania: 9 articles (09/2020 - 01/2006)
2. Lorson, Christian L: 7 articles (01/2022 - 01/2016)
3. Bresolin, Nereo: 7 articles (09/2020 - 01/2006)
4. Nizzardo, Monica: 7 articles (09/2020 - 09/2009)
5. Villalón, Eric: 6 articles (01/2022 - 01/2018)
6. Comi, Giacomo P: 6 articles (09/2020 - 01/2006)
7. Hübner, Christoph: 6 articles (01/2009 - 12/2003)
8. Shababi, Monir: 5 articles (12/2021 - 01/2016)
9. Jablonka, Sibylle: 5 articles (01/2018 - 09/2004)
10. Schuelke, Markus: 5 articles (01/2009 - 12/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spinal muscular atrophy with respiratory distress 1:
1. Proteins (Proteins, Gene)FDA Link
2. RNA Precursors (Precursor, mRNA)IBA
3. Polyethylene Glycols (Polyethylene Glycol)FDA LinkGeneric
4. Immunoglobulins (Immunoglobulin)IBA
5. Carrier Proteins (Binding Protein)IBA
6. Nonsense Codon (Nonsense Mutation)IBA
7. Messenger RNA (mRNA)IBA
8. RNA Helicases (RNA Helicase)IBA
9. DNA (Deoxyribonucleic Acid)IBA
10. Adenosine Triphosphatases (ATPase)IBA

Therapies and Procedures

1. Transplantation
2. Therapeutics
3. Artificial Respiration (Mechanical Ventilation)
4. Denervation
5. Stem Cell Transplantation