Spinal Muscular Atrophy, Type I (SMA1)

Alias:

Werdnig-Hoffmann Disease

Sma1

Proximal Spinal Muscular Atrophy Type 1

Infantile-Onset Spinal Muscular Atrophy

Infantile Spinal Muscular Atrophy

Infantile Muscular Atrophy

Spinal Muscular Atrophy-1

Spinal Muscular Atrophy 1

Hmn Proximal Type I

Sma Type 1

Sma Type I

Sma I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Proximal Hereditary Motor Neuropathy Type I

Progressive Muscular Atrophy of Infancy

Atrophy, Muscular, Spinal, Type 1

Spinal Muscular Atrophy Type I

Muscular Atrophy, Infantile

Sma, Infantile Acute Form

Sma Infantile Acute Form

Werdnig-Hoffman Disease

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinal Muscular Atrophy, Type I, also known as werdnig-hoffmann disease, is related to distal spinal muscular atrophy 1 and spinal muscular atrophy, x-linked 2. An important gene associated with Spinal Muscular Atrophy, Type I is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is SARS-CoV-2 modulates host translation machinery. The drugs Valproic acid and Phenylbutyric acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are decreased fetal movement and respiratory insufficiency

Related ID：

MALACARDS：SPN393

OMIM：253300

MESH：D014897