Spinal Muscular Atrophies of Childhood

A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)

Also Known As:

Werdnig Hoffman Disease; Kugelberg-Welander Disease; Spinal Muscular Atrophy Type I; Infantile Spinal Muscular Atrophy; Werdnig-Hoffmann Disease; HMN (Hereditary Motor Neuropathy) Proximal Type I; Kugelberg-Welander Syndrome; Muscular Atrophy, Infantile; Muscular Atrophy, Juvenile; Muscular Atrophy, Spinal, Infantile Chronic Form; Muscular Atrophy, Spinal, Intermediate Type; Muscular Atrophy, Spinal, Type I; Muscular Atrophy, Spinal, Type II; Muscular Atrophy, Spinal, Type III; Proximal Hereditary Motor Neuropathy Type I; SMA, Infantile Acute Form; Spinal Muscular Atrophy 1; Spinal Muscular Atrophy Type 2; Spinal Muscular Atrophy Type II; Spinal Muscular Atrophy Type III; Spinal Muscular Atrophy, Mild Childhood and Adolescent Form; Spinal Muscular Atrophy, Type 3; Spinal Muscular Atrophy, Type I; Spinal Muscular Atrophy, Type II; Spinal Muscular Atrophy, Type III; Type I Spinal Muscular Atrophy; Type II Spinal Muscular Atrophy; Type III Spinal Muscular Atrophy; Infantile Muscular Atrophy; Juvenile Muscular Atrophy; Kugelberg Welander Disease; Kugelberg Welander Syndrome; Werdnig Hoffmann Disease; Juvenile Spinal Muscular Atrophy; Muscular Atrophy, Spinal, Infantile; Spinal Muscular Atrophy, Infantile; Spinal Muscular Atrophy, Juvenile

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Motor Neuron Disease: 1851
    - Spinal Muscular Atrophy: 2346
      - Spinal Muscular Atrophies of Childhood: 200
  - Nervous System Heredodegenerative Disorders: 62
    - Spinal Muscular Atrophies of Childhood: 200
- Central Nervous System Diseases: 4371
  - Spinal Cord Diseases: 4420
    - Spinal Muscular Atrophy: 2346
      - Spinal Muscular Atrophies of Childhood: 200
- Neuromuscular Diseases: 2048
  - Motor Neuron Disease: 1851
    - Spinal Muscular Atrophy: 2346
      - Spinal Muscular Atrophies of Childhood: 200
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Spinal Muscular Atrophies of Childhood: 200

Jael G Carbajal Selected Research

Jael G Carbajal Research Topics

Disease

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Therapy/Procedure