Distal Spinal Muscular Atrophy Type 4 (DSMA4)

Alias:

Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

Autosomal Recessive Distal Spinal Muscular Atrophy Type 4

Dsma4

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Distal Spinal Muscular Atrophy Type 4, also known as autosomal recessive lower motor neuron disease with childhood onset, is related to motor neuron disease and neuronopathy, distal hereditary motor, autosomal recessive 4, and has symptoms including waddling gait An important gene associated with Distal Spinal Muscular Atrophy Type 4 is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5). Affiliated tissues include tongue, and related phenotype is muscle.

Related ID：

MALACARDS：DST151

MESH：C567023