Spinal Muscular Atrophy, Type Iii (SMA3)

Alias:

Juvenile Spinal Muscular Atrophy

Kugelberg-Welander Disease

Sma3

Sma Iii

Proximal Spinal Muscular Atrophy Type 3

Kugelberg-Welander Syndrome

Spinal Muscular Atrophy-3

Sma Type Iii

Sma Type 3

Sma-Iii

Kws

Spinal Muscular Atrophy, Mild Childhood and Adolescent Form

Spinal Muscular Atrophy Mild Childhood and Adolescent Form

Spinal Muscular Atrophy, Type Iii, Modifier of

Wohlfart-Kugelberg-Welander Disease

Atrophy, Muscular, Spinal, Type Iii

Type Iii Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Iii

Spinal Muscular Atrophy Type 3

Muscular Atrophy, Juvenile

Spinal Muscular Atrophy 3

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinal Muscular Atrophy, Type Iii, also known as juvenile spinal muscular atrophy, is related to spinal muscular atrophy with lower extremity predominant and spinal muscular atrophy, and has symptoms including muscle cramp and tremor of hands. An important gene associated with Spinal Muscular Atrophy, Type Iii is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is SARS-CoV-2 modulates host translation machinery. The drugs Risdiplam and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are proximal lower limb amyotrophy and pelvic girdle muscle weakness

Related ID：

MALACARDS：SPN394

OMIM：253400

MESH：D014897