Spinal Muscular Atrophy with Lower Extremity Predominant

Alias:

Spinal Muscular Atrophy with Lower Extremity Predominance

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy with Contractures

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Atrophy, Muscular, Spinal, Lower Extremity Predominant

Spinal Muscular Atrophy, Lower Extremity, Dominant

Kugelberg-Welander Syndrome, Autosomal Dominant

Sma-Led

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinal Muscular Atrophy with Lower Extremity Predominant, also known as spinal muscular atrophy with lower extremity predominance, is related to spinal muscular atrophy with lower extremity predominant 1 and arthrogryposis syndrome. An important gene associated with Spinal Muscular Atrophy with Lower Extremity Predominant is BICD2 (BICD Cargo Adaptor 2), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include skeletal muscle and brain, and related phenotypes are nervous system and behavior/neurological

Related ID：

MALACARDS：SPN460