Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant (SMALED1)

Alias:

Smaled1

Dync1h1-Related Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy Without Contractures

Dync1h1-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy

Dync1h1-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atro

Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Atrophy, Muscular, Spinal, Lower Extremity Predominant, Type 1

Autosomal Dominant Childhood Proximal Spinal Muscular Atrophy

Autosomal Dominant Juvenile Proximal Spinal Muscular Atrophy

Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Ad

Kugelberg-Welander Syndrome, Autosomal Dominant

Autosomal Dominant Kugelberg-Welander Syndrome

Sma-Led

Smaled

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Gene & Mutation

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References Literature

Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant, also known as smaled1, is related to spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant and spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant, and has symptoms including waddling gait An important gene associated with Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1). Affiliated tissues include spinal cord and brain, and related phenotypes are global developmental delay and waddling gait

Related ID：

MALACARDS：SPN385

OMIM：158600

MESH：D009134